Linked Data
dbSNP Id:
rs1356886
gnomAD v2:
2-50515928-T-G
gnomAD v3:
2-50288790-T-G
gnomAD v4:
2-50288790-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50288790T>G , CM000664.2:g.50288790T>G | GRCh38 |
| NC_000002.11:g.50515928T>G , CM000664.1:g.50515928T>G | GRCh37 |
| NC_000002.10:g.50369432T>G | NCBI36 |
| NG_011878.1:g.748747A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.3365-51820A>C MANE Select | ENSP00000385017.2:n.3365-51820A>C | |
| ENST00000636298.1:n.2264-51820A>C | ||
| ENST00000636818.1:n.53-51820A>C | ||
| ENST00000637889.1:n.532-51820A>C | ||
| ENST00000637906.1:c.143-51820A>C | ENSP00000490198.1:n.143-51820A>C | |
| ENST00000331040.9:c.2519-51820A>C | ENSP00000489573.1:n.2519-51820A>C | |
| ENST00000342183.9:c.260-51820A>C | ENSP00000341184.5:n.260-51820A>C | |
| ENST00000401669.6:c.3365-51820A>C | ENSP00000385017.2:n.3365-51820A>C | |
| ENST00000401710.5:c.260-51820A>C | ENSP00000385580.2:n.260-51820A>C | |
| ENST00000404971.5:c.3485-51820A>C | ENSP00000385142.1:n.3485-51820A>C | |
| ENST00000405472.7:c.3329-51820A>C | ENSP00000434015.2:n.3329-51820A>C | |
| ENST00000406316.6:c.3365-51820A>C | ENSP00000384311.2:n.3365-51820A>C | |
| ENST00000611589.4:c.-473-51820A>C | ENSP00000483634.1:n.-473-51820A>C | |
| ENST00000625320.2:c.494-51820A>C | ENSP00000486253.1:n.494-51820A>C | |
| ENST00000625672.2:c.3341-51820A>C | ENSP00000485887.1:n.3341-51820A>C | |
| ENST00000628364.2:c.260-51820A>C | ENSP00000485815.1:n.260-51820A>C | |
| ENST00000630543.2:c.3341-51820A>C | ENSP00000486879.1:n.3341-51820A>C | |
| ENST00000635264.1:n.174-51820A>C | ||
| NM_001135659.1:c.3485-51820A>C | NP_001129131.1:n.3485-51820A>C | |
| NM_004801.4:c.3365-51820A>C | NP_004792.1:n.3365-51820A>C | |
| NM_138735.2:c.260-51820A>C | NP_620072.1:n.260-51820A>C | |
| XM_005264642.2:c.3386-51820A>C | XP_005264699.1:n.3386-51820A>C | |
| XM_005264643.2:c.3341-51820A>C | XP_005264700.1:n.3341-51820A>C | |
| XM_006712137.2:c.3386-51820A>C | XP_006712200.1:n.3386-51820A>C | |
| XM_006712140.2:c.3386-51820A>C | XP_006712203.1:n.3386-51820A>C | |
| XM_006712141.2:c.3386-51820A>C | XP_006712204.1:n.3386-51820A>C | |
| XM_011533167.1:c.3386-51820A>C | XP_011531469.1:n.3386-51820A>C | |
| XM_011533168.1:c.3383-51820A>C | XP_011531470.1:n.3383-51820A>C | |
| XM_011533169.1:c.3374-51820A>C | XP_011531471.1:n.3374-51820A>C | |
| XM_011533170.1:c.3368-51820A>C | XP_011531472.1:n.3368-51820A>C | |
| XM_011533171.1:c.3365-51820A>C | XP_011531473.1:n.3365-51820A>C | |
| XM_011533172.1:c.3359-51820A>C | XP_011531474.1:n.3359-51820A>C | |
| XM_011533173.1:c.3356-51820A>C | XP_011531475.1:n.3356-51820A>C | |
| XM_011533174.1:c.3341-51820A>C | XP_011531476.1:n.3341-51820A>C | |
| XM_011533175.1:c.3329-51820A>C | XP_011531477.1:n.3329-51820A>C | |
| XM_011533176.1:c.3326-51820A>C | XP_011531478.1:n.3326-51820A>C | |
| XM_011533177.1:c.3386-51820A>C | XP_011531479.1:n.3386-51820A>C | |
| XM_011533178.1:c.3296-51820A>C | XP_011531480.1:n.3296-51820A>C | |
| XM_011533179.1:c.3341-51820A>C | XP_011531481.1:n.3341-51820A>C | |
| XM_011533180.1:c.3386-51820A>C | XP_011531482.1:n.3386-51820A>C | |
| XM_011533181.1:c.2591-51820A>C | XP_011531483.1:n.2591-51820A>C | |
| XM_011533182.1:c.2546-51820A>C | XP_011531484.1:n.2546-51820A>C | |
| XM_011533183.1:c.2519-51820A>C | XP_011531485.1:n.2519-51820A>C | |
| XM_011533184.1:c.2426-51820A>C | XP_011531486.1:n.2426-51820A>C | |
| NM_001135659.2:c.3485-51820A>C | NP_001129131.1:n.3485-51820A>C | |
| NM_001330077.1:c.3341-51820A>C | NP_001317006.1:n.3341-51820A>C | |
| NM_001330078.1:c.3365-51820A>C | NP_001317007.1:n.3365-51820A>C | |
| NM_001330082.1:c.3341-51820A>C | NP_001317011.1:n.3341-51820A>C | |
| NM_001330083.1:c.3299-51820A>C | NP_001317012.1:n.3299-51820A>C | |
| NM_001330084.1:c.3299-51820A>C | NP_001317013.1:n.3299-51820A>C | |
| NM_001330085.1:c.3338-51820A>C | NP_001317014.1:n.3338-51820A>C | |
| NM_001330086.1:c.3365-51820A>C | NP_001317015.1:n.3365-51820A>C | |
| NM_001330087.1:c.3254-51820A>C | NP_001317016.1:n.3254-51820A>C | |
| NM_001330088.1:c.3284-51820A>C | NP_001317017.1:n.3284-51820A>C | |
| NM_001330091.1:c.260-51820A>C | NP_001317020.1:n.260-51820A>C | |
| NM_001330092.1:c.260-51820A>C | NP_001317021.1:n.260-51820A>C | |
| NM_001330093.1:c.3362-51820A>C | NP_001317022.1:n.3362-51820A>C | |
| NM_001330094.1:c.3353-51820A>C | NP_001317023.1:n.3353-51820A>C | |
| NM_001330095.1:c.3314-51820A>C | NP_001317024.1:n.3314-51820A>C | |
| NM_001330096.1:c.3254-51820A>C | NP_001317025.1:n.3254-51820A>C | |
| NM_001330097.1:c.260-51820A>C | NP_001317026.1:n.260-51820A>C | |
| NM_004801.5:c.3365-51820A>C | NP_004792.1:n.3365-51820A>C | |
| NM_138735.4:c.260-51820A>C | NP_620072.1:n.260-51820A>C | |
| XM_005264642.4:c.3386-51820A>C | XP_005264699.1:n.3386-51820A>C | |
| XM_006712137.4:c.3386-51820A>C | XP_006712200.1:n.3386-51820A>C | |
| XM_006712140.4:c.3413-51820A>C | XP_006712203.2:n.3413-51820A>C | |
| XM_011533167.3:c.3386-51820A>C | XP_011531469.1:n.3386-51820A>C | |
| XM_011533172.3:c.3359-51820A>C | XP_011531474.1:n.3359-51820A>C | |
| XM_011533175.3:c.3329-51820A>C | XP_011531477.1:n.3329-51820A>C | |
| XM_011533177.3:c.3386-51820A>C | XP_011531479.1:n.3386-51820A>C | |
| XM_011533178.3:c.3296-51820A>C | XP_011531480.1:n.3296-51820A>C | |
| XM_011533180.3:c.3386-51820A>C | XP_011531482.1:n.3386-51820A>C | |
| XM_011533183.2:c.2519-51820A>C | XP_011531485.1:n.2519-51820A>C | |
| XM_017005303.2:c.3413-51820A>C | XP_016860792.1:n.3413-51820A>C | |
| XM_017005304.2:c.3410-51820A>C | XP_016860793.1:n.3410-51820A>C | |
| XM_017005305.2:c.3413-51820A>C | XP_016860794.1:n.3413-51820A>C | |
| XM_017005306.2:c.3401-51820A>C | XP_016860795.1:n.3401-51820A>C | |
| XM_017005307.2:c.3395-51820A>C | XP_016860796.1:n.3395-51820A>C | |
| XM_017005308.2:c.3392-51820A>C | XP_016860797.1:n.3392-51820A>C | |
| XM_017005309.2:c.3386-51820A>C | XP_016860798.1:n.3386-51820A>C | |
| XM_017005310.2:c.3383-51820A>C | XP_016860799.1:n.3383-51820A>C | |
| XM_017005311.2:c.3368-51820A>C | XP_016860800.1:n.3368-51820A>C | |
| XM_017005314.2:c.3353-51820A>C | XP_016860803.1:n.3353-51820A>C | |
| XM_017005315.2:c.3359-51820A>C | XP_016860804.1:n.3359-51820A>C | |
| XM_017005316.2:c.3350-51820A>C | XP_016860805.1:n.3350-51820A>C | |
| XM_017005318.2:c.3341-51820A>C | XP_016860807.1:n.3341-51820A>C | |
| XM_017005320.2:c.3338-51820A>C | XP_016860809.1:n.3338-51820A>C | |
| XM_017005321.2:c.3413-51820A>C | XP_016860810.1:n.3413-51820A>C | |
| XM_017005322.2:c.3413-51820A>C | XP_016860811.1:n.3413-51820A>C | |
| XM_017005324.2:c.3359-51820A>C | XP_016860813.1:n.3359-51820A>C | |
| XM_017005325.2:c.3359-51820A>C | XP_016860814.1:n.3359-51820A>C | |
| XM_017005326.2:c.3347-51820A>C | XP_016860815.1:n.3347-51820A>C | |
| XM_017005327.2:c.3341-51820A>C | XP_016860816.1:n.3341-51820A>C | |
| XM_017005329.2:c.3413-51820A>C | XP_016860818.1:n.3413-51820A>C | |
| XM_017005334.2:c.2453-51820A>C | XP_016860823.1:n.2453-51820A>C | |
| NM_001330078.2:c.3365-51820A>C MANE Select | NP_001317007.1:n.3365-51820A>C | |
| NM_001135659.3:c.3485-51820A>C | NP_001129131.1:n.3485-51820A>C | |
| NM_001330077.2:c.3341-51820A>C | NP_001317006.1:n.3341-51820A>C | |
| NM_001330082.2:c.3341-51820A>C | NP_001317011.1:n.3341-51820A>C | |
| NM_001330083.2:c.3299-51820A>C | NP_001317012.1:n.3299-51820A>C | |
| NM_001330084.2:c.3299-51820A>C | NP_001317013.1:n.3299-51820A>C | |
| NM_001330085.2:c.3338-51820A>C | NP_001317014.1:n.3338-51820A>C | |
| NM_001330086.2:c.3365-51820A>C | NP_001317015.1:n.3365-51820A>C | |
| NM_001330087.2:c.3254-51820A>C | NP_001317016.1:n.3254-51820A>C | |
| NM_001330088.2:c.3284-51820A>C | NP_001317017.1:n.3284-51820A>C | |
| NM_001330091.2:c.260-51820A>C | NP_001317020.1:n.260-51820A>C | |
| NM_001330092.2:c.260-51820A>C | NP_001317021.1:n.260-51820A>C | |
| NM_001330093.2:c.3362-51820A>C | NP_001317022.1:n.3362-51820A>C | |
| NM_001330094.2:c.3353-51820A>C | NP_001317023.1:n.3353-51820A>C | |
| NM_001330095.2:c.3314-51820A>C | NP_001317024.1:n.3314-51820A>C | |
| NM_001330096.2:c.3254-51820A>C | NP_001317025.1:n.3254-51820A>C | |
| NM_001330097.2:c.260-51820A>C | NP_001317026.1:n.260-51820A>C | |
| NM_004801.6:c.3365-51820A>C | NP_004792.1:n.3365-51820A>C | |
| NM_138735.5:c.260-51820A>C | NP_620072.1:n.260-51820A>C |