Linked Data
ClinVar Variation Id:
93591
ClinVar RCV Id:
RCV002311581
dbSNP Id:
rs115211871
ExAC:
2:50733709 G / A
gnomAD v2:
2-50733709-G-A
gnomAD v3:
2-50506571-G-A
gnomAD v4:
2-50506571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50506571G>A , CM000664.2:g.50506571G>A | GRCh38 |
| NC_000002.11:g.50733709G>A , CM000664.1:g.50733709G>A | GRCh37 |
| NC_000002.10:g.50587213G>A | NCBI36 |
| NG_011878.1:g.530966C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.2421C>T MANE Select | ENSP00000385017.2:p.Asn807= | |
| ENST00000462791.2:n.397C>T | ||
| ENST00000636298.1:n.1320C>T | ||
| ENST00000331040.9:c.1575C>T | ENSP00000489573.1:p.Asn525= | |
| ENST00000401669.6:c.2421C>T | ENSP00000385017.2:p.Asn807= | |
| ENST00000402717.6:c.1566C>T | ENSP00000385434.4:p.Asn522= | |
| ENST00000404971.5:c.2541C>T | ENSP00000385142.1:p.Asn847= | |
| ENST00000405472.7:c.2385C>T | ENSP00000434015.2:p.Asn795= | |
| ENST00000406316.6:c.2421C>T | ENSP00000384311.2:p.Asn807= | |
| ENST00000406859.7:c.1611C>T | ENSP00000385681.4:p.Asn537= | |
| ENST00000462791.1:n.370C>T | ||
| ENST00000474354.1:n.358C>T | ||
| ENST00000495871.2:c.471-8857C>T | ||
| ENST00000625672.2:c.2397C>T | ENSP00000485887.1:p.Asn799= | |
| ENST00000630543.2:c.2397C>T | ENSP00000486879.1:p.Asn799= | |
| NM_001135659.1:c.2541C>T | NP_001129131.1:p.Asn847= | |
| NM_004801.4:c.2421C>T | NP_004792.1:p.Asn807= | |
| XM_005264642.2:c.2442C>T | XP_005264699.1:p.Asn814= | |
| XM_005264643.2:c.2397C>T | XP_005264700.1:p.Asn799= | |
| XM_006712137.2:c.2442C>T | XP_006712200.1:p.Asn814= | |
| XM_006712140.2:c.2442C>T | XP_006712203.1:p.Asn814= | |
| XM_006712141.2:c.2442C>T | XP_006712204.1:p.Asn814= | |
| XM_011533167.1:c.2442C>T | XP_011531469.1:p.Asn814= | |
| XM_011533168.1:c.2439C>T | XP_011531470.1:p.Asn813= | |
| XM_011533169.1:c.2430C>T | XP_011531471.1:p.Asn810= | |
| XM_011533170.1:c.2424C>T | XP_011531472.1:p.Asn808= | |
| XM_011533171.1:c.2421C>T | XP_011531473.1:p.Asn807= | |
| XM_011533172.1:c.2415C>T | XP_011531474.1:p.Asn805= | |
| XM_011533173.1:c.2412C>T | XP_011531475.1:p.Asn804= | |
| XM_011533174.1:c.2397C>T | XP_011531476.1:p.Asn799= | |
| XM_011533175.1:c.2385C>T | XP_011531477.1:p.Asn795= | |
| XM_011533176.1:c.2382C>T | XP_011531478.1:p.Asn794= | |
| XM_011533177.1:c.2442C>T | XP_011531479.1:p.Asn814= | |
| XM_011533178.1:c.2352C>T | XP_011531480.1:p.Asn784= | |
| XM_011533179.1:c.2397C>T | XP_011531481.1:p.Asn799= | |
| XM_011533180.1:c.2442C>T | XP_011531482.1:p.Asn814= | |
| XM_011533181.1:c.1647C>T | XP_011531483.1:p.Asn549= | |
| XM_011533182.1:c.1602C>T | XP_011531484.1:p.Asn534= | |
| XM_011533183.1:c.1575C>T | XP_011531485.1:p.Asn525= | |
| XM_011533184.1:c.1482C>T | XP_011531486.1:p.Asn494= | |
| NM_001135659.2:c.2541C>T | NP_001129131.1:p.Asn847= | |
| NM_001330077.1:c.2397C>T | NP_001317006.1:p.Asn799= | |
| NM_001330078.1:c.2421C>T | NP_001317007.1:p.Asn807= | |
| NM_001330082.1:c.2397C>T | NP_001317011.1:p.Asn799= | |
| NM_001330083.1:c.2355C>T | NP_001317012.1:p.Asn785= | |
| NM_001330084.1:c.2355C>T | NP_001317013.1:p.Asn785= | |
| NM_001330085.1:c.2394C>T | NP_001317014.1:p.Asn798= | |
| NM_001330086.1:c.2421C>T | NP_001317015.1:p.Asn807= | |
| NM_001330087.1:c.2310C>T | NP_001317016.1:p.Asn770= | |
| NM_001330088.1:c.2340C>T | NP_001317017.1:p.Asn780= | |
| NM_001330093.1:c.2418C>T | NP_001317022.1:p.Asn806= | |
| NM_001330094.1:c.2409C>T | NP_001317023.1:p.Asn803= | |
| NM_001330095.1:c.2370C>T | NP_001317024.1:p.Asn790= | |
| NM_001330096.1:c.2310C>T | NP_001317025.1:p.Asn770= | |
| NM_004801.5:c.2421C>T | NP_004792.1:p.Asn807= | |
| XM_005264642.4:c.2442C>T | XP_005264699.1:p.Asn814= | |
| XM_006712137.4:c.2442C>T | XP_006712200.1:p.Asn814= | |
| XM_006712140.4:c.2442C>T | XP_006712203.2:p.Asn814= | |
| XM_011533167.3:c.2442C>T | XP_011531469.1:p.Asn814= | |
| XM_011533172.3:c.2415C>T | XP_011531474.1:p.Asn805= | |
| XM_011533175.3:c.2385C>T | XP_011531477.1:p.Asn795= | |
| XM_011533177.3:c.2442C>T | XP_011531479.1:p.Asn814= | |
| XM_011533178.3:c.2352C>T | XP_011531480.1:p.Asn784= | |
| XM_011533180.3:c.2442C>T | XP_011531482.1:p.Asn814= | |
| XM_011533183.2:c.1575C>T | XP_011531485.1:p.Asn525= | |
| XM_017005303.2:c.2442C>T | XP_016860792.1:p.Asn814= | |
| XM_017005304.2:c.2439C>T | XP_016860793.1:p.Asn813= | |
| XM_017005305.2:c.2442C>T | XP_016860794.1:p.Asn814= | |
| XM_017005306.2:c.2430C>T | XP_016860795.1:p.Asn810= | |
| XM_017005307.2:c.2424C>T | XP_016860796.1:p.Asn808= | |
| XM_017005308.2:c.2421C>T | XP_016860797.1:p.Asn807= | |
| XM_017005309.2:c.2415C>T | XP_016860798.1:p.Asn805= | |
| XM_017005310.2:c.2412C>T | XP_016860799.1:p.Asn804= | |
| XM_017005311.2:c.2397C>T | XP_016860800.1:p.Asn799= | |
| XM_017005314.2:c.2382C>T | XP_016860803.1:p.Asn794= | |
| XM_017005315.2:c.2415C>T | XP_016860804.1:p.Asn805= | |
| XM_017005316.2:c.2379C>T | XP_016860805.1:p.Asn793= | |
| XM_017005318.2:c.2370C>T | XP_016860807.1:p.Asn790= | |
| XM_017005320.2:c.2394C>T | XP_016860809.1:p.Asn798= | |
| XM_017005321.2:c.2442C>T | XP_016860810.1:p.Asn814= | |
| XM_017005322.2:c.2442C>T | XP_016860811.1:p.Asn814= | |
| XM_017005324.2:c.2415C>T | XP_016860813.1:p.Asn805= | |
| XM_017005325.2:c.2415C>T | XP_016860814.1:p.Asn805= | |
| XM_017005326.2:c.2403C>T | XP_016860815.1:p.Asn801= | |
| XM_017005327.2:c.2397C>T | XP_016860816.1:p.Asn799= | |
| XM_017005329.2:c.2442C>T | XP_016860818.1:p.Asn814= | |
| XM_017005334.2:c.1482C>T | XP_016860823.1:p.Asn494= | |
| NM_001330078.2:c.2421C>T MANE Select | NP_001317007.1:p.Asn807= | |
| NM_001135659.3:c.2541C>T | NP_001129131.1:p.Asn847= | |
| NM_001330077.2:c.2397C>T | NP_001317006.1:p.Asn799= | |
| NM_001330082.2:c.2397C>T | NP_001317011.1:p.Asn799= | |
| NM_001330083.2:c.2355C>T | NP_001317012.1:p.Asn785= | |
| NM_001330084.2:c.2355C>T | NP_001317013.1:p.Asn785= | |
| NM_001330085.2:c.2394C>T | NP_001317014.1:p.Asn798= | |
| NM_001330086.2:c.2421C>T | NP_001317015.1:p.Asn807= | |
| NM_001330087.2:c.2310C>T | NP_001317016.1:p.Asn770= | |
| NM_001330088.2:c.2340C>T | NP_001317017.1:p.Asn780= | |
| NM_001330093.2:c.2418C>T | NP_001317022.1:p.Asn806= | |
| NM_001330094.2:c.2409C>T | NP_001317023.1:p.Asn803= | |
| NM_001330095.2:c.2370C>T | NP_001317024.1:p.Asn790= | |
| NM_001330096.2:c.2310C>T | NP_001317025.1:p.Asn770= | |
| NM_004801.6:c.2421C>T | NP_004792.1:p.Asn807= |