Linked Data
dbSNP Id:
rs3757837
gnomAD v2:
7-44276651-T-C
gnomAD v3:
7-44237052-T-C
gnomAD v4:
7-44237052-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44237052T>C , CM000669.2:g.44237052T>C | GRCh38 |
| NC_000007.13:g.44276651T>C , CM000669.1:g.44276651T>C | GRCh37 |
| NC_000007.12:g.44243176T>C | NCBI36 |
| NG_029407.1:g.93580A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433930.2:c.292-2376A>G | ||
| ENST00000470984.6:c.635-2376A>G | ENSP00000514879.1:n.635-2376A>G | |
| ENST00000484972.6:n.1095-2376A>G | ||
| ENST00000495819.6:c.560-2373A>G | ENSP00000514882.1:n.560-2373A>G | |
| ENST00000700233.1:c.1022-2376A>G | ENSP00000514871.1:n.1022-2376A>G | |
| ENST00000700234.1:c.159+2537A>G | ||
| ENST00000700235.1:c.1022-2376A>G | ENSP00000514874.1:n.1022-2376A>G | |
| ENST00000700236.1:c.304-1563A>G | ||
| ENST00000700237.1:c.635-2376A>G | ENSP00000514876.1:n.635-2376A>G | |
| ENST00000700238.1:c.635-2376A>G | ENSP00000514877.1:n.635-2376A>G | |
| ENST00000700239.1:c.936-2376A>G | ||
| ENST00000700240.1:c.635-2376A>G | ENSP00000514880.1:n.635-2376A>G | |
| ENST00000700241.1:c.1024-2376A>G | ||
| ENST00000700242.1:n.1083-2376A>G | ||
| ENST00000700243.1:c.635-2376A>G | ENSP00000514883.1:n.635-2376A>G | |
| ENST00000700283.1:c.904-2376A>G | ||
| ENST00000700284.1:c.*1251-2376A>G | ENSP00000514917.1:n.*1251-2376A>G | |
| ENST00000700285.1:c.1022-2376A>G | ENSP00000514918.1:n.1022-2376A>G | |
| ENST00000700286.1:n.1523-2376A>G | ||
| ENST00000700287.1:c.921-2376A>G | ||
| ENST00000700288.1:c.557-2376A>G | ENSP00000514920.1:n.557-2376A>G | |
| ENST00000700289.1:n.767-2376A>G | ||
| ENST00000700290.1:c.560-2376A>G | ENSP00000514921.1:n.560-2376A>G | |
| ENST00000700291.1:c.914-2376A>G | ENSP00000514922.1:n.914-2376A>G | |
| ENST00000700292.1:c.404-2376A>G | ENSP00000514923.1:n.404-2376A>G | |
| ENST00000395749.7:c.1022-2376A>G MANE Select | ENSP00000379098.2:n.1022-2376A>G | |
| ENST00000258682.10:c.947-2376A>G | ENSP00000258682.6:n.947-2376A>G | |
| ENST00000346990.8:c.946+3655A>G | ENSP00000326518.5:n.946+3655A>G | |
| ENST00000347193.8:c.1022-2376A>G | ENSP00000326544.6:n.1022-2376A>G | |
| ENST00000350811.7:c.1022-2376A>G | ENSP00000326375.5:n.1022-2376A>G | |
| ENST00000353185.7:c.904-2376A>G | ENSP00000326600.4:n.904-2376A>G | |
| ENST00000353625.8:c.947-2373A>G | ENSP00000326427.5:n.947-2373A>G | |
| ENST00000358707.7:c.947-2373A>G | ENSP00000351542.3:n.947-2373A>G | |
| ENST00000395747.6:c.947-2373A>G | ENSP00000379096.2:n.947-2373A>G | |
| ENST00000395749.6:c.1022-2376A>G | ENSP00000379098.2:n.1022-2376A>G | |
| ENST00000433930.1:c.292-2376A>G | ||
| ENST00000440254.6:c.1022-2376A>G | ENSP00000397937.2:n.1022-2376A>G | |
| ENST00000457475.5:c.947-2373A>G | ENSP00000390292.1:n.947-2373A>G | |
| ENST00000497584.5:n.1273-2376A>G | ||
| ENST00000523845.5:c.*562-2376A>G | ENSP00000428912.1:n.*562-2376A>G | |
| NM_001220.4:c.1022-2376A>G | NP_001211.3:n.1022-2376A>G | |
| NM_001293170.1:c.1022-2376A>G | NP_001280099.1:n.1022-2376A>G | |
| NM_172078.2:c.1022-2376A>G | NP_742075.1:n.1022-2376A>G | |
| NM_172079.2:c.947-2373A>G | NP_742076.1:n.947-2373A>G | |
| NM_172080.2:c.947-2376A>G | NP_742077.1:n.947-2376A>G | |
| NM_172081.2:c.947-2373A>G | NP_742078.1:n.947-2373A>G | |
| NM_172082.2:c.1022-2376A>G | NP_742079.1:n.1022-2376A>G | |
| NM_172083.2:c.947-2373A>G | NP_742080.1:n.947-2373A>G | |
| NM_172084.2:c.946+3655A>G | NP_742081.1:n.946+3655A>G | |
| XM_005249862.3:c.1022-2376A>G | XP_005249919.1:n.1022-2376A>G | |
| XM_005249864.3:c.947-2373A>G | XP_005249921.1:n.947-2373A>G | |
| XM_006715781.2:c.947-2376A>G | XP_006715844.1:n.947-2376A>G | |
| XM_006715784.2:c.1022-2376A>G | XP_006715847.1:n.1022-2376A>G | |
| XM_011515547.1:c.1022-2376A>G | XP_011513849.1:n.1022-2376A>G | |
| XM_011515548.1:c.1022-2376A>G | XP_011513850.1:n.1022-2376A>G | |
| XM_011515549.1:c.1022-2376A>G | XP_011513851.1:n.1022-2376A>G | |
| XM_011515550.1:c.947-2373A>G | XP_011513852.1:n.947-2373A>G | |
| XM_011515551.1:c.1022-2376A>G | XP_011513853.1:n.1022-2376A>G | |
| XM_011515552.1:c.947-2376A>G | XP_011513854.1:n.947-2376A>G | |
| XM_011515553.1:c.1022-2376A>G | XP_011513855.1:n.1022-2376A>G | |
| XM_011515554.1:c.947-2376A>G | XP_011513856.1:n.947-2376A>G | |
| XM_011515555.1:c.1022-2376A>G | XP_011513857.1:n.1022-2376A>G | |
| XM_011515556.1:c.947-2373A>G | XP_011513858.1:n.947-2373A>G | |
| XM_011515557.1:c.947-2376A>G | XP_011513859.1:n.947-2376A>G | |
| XM_011515558.1:c.1022-2376A>G | XP_011513860.1:n.1022-2376A>G | |
| XM_011515559.1:c.635-2376A>G | XP_011513861.1:n.635-2376A>G | |
| XM_011515560.1:c.635-2376A>G | XP_011513862.1:n.635-2376A>G | |
| XM_011515558.2:c.1022-2376A>G | XP_011513860.1:n.1022-2376A>G | |
| XM_011515559.2:c.635-2376A>G | XP_011513861.1:n.635-2376A>G | |
| XM_017012660.1:c.947-2373A>G | XP_016868149.1:n.947-2373A>G | |
| XM_017012661.1:c.1022-2376A>G | XP_016868150.1:n.1022-2376A>G | |
| XM_017012662.1:c.947-2376A>G | XP_016868151.1:n.947-2376A>G | |
| XM_017012663.2:c.635-2376A>G | XP_016868152.1:n.635-2376A>G | |
| XM_017012664.1:c.947-2376A>G | XP_016868153.1:n.947-2376A>G | |
| XM_017012665.1:c.947-2376A>G | XP_016868154.1:n.947-2376A>G | |
| XM_017012666.2:c.635-2376A>G | XP_016868155.1:n.635-2376A>G | |
| XM_017012667.2:c.635-2376A>G | XP_016868156.1:n.635-2376A>G | |
| XM_017012668.2:c.560-2373A>G | XP_016868157.1:n.560-2373A>G | |
| XM_017012669.2:c.635-2376A>G | XP_016868158.1:n.635-2376A>G | |
| XM_017012670.2:c.560-2373A>G | XP_016868159.1:n.560-2373A>G | |
| XM_024446945.1:c.1022-2376A>G | XP_024302713.1:n.1022-2376A>G | |
| XM_024446946.1:c.560-2376A>G | XP_024302714.1:n.560-2376A>G | |
| NM_001220.5:c.1022-2376A>G MANE Select | NP_001211.3:n.1022-2376A>G | |
| NM_001293170.2:c.1022-2376A>G | NP_001280099.1:n.1022-2376A>G | |
| NM_172078.3:c.1022-2376A>G | NP_742075.1:n.1022-2376A>G | |
| NM_172080.3:c.947-2376A>G | NP_742077.1:n.947-2376A>G | |
| NM_172081.3:c.947-2373A>G | NP_742078.1:n.947-2373A>G | |
| NM_172082.3:c.1022-2376A>G | NP_742079.1:n.1022-2376A>G | |
| NM_172083.3:c.947-2373A>G | NP_742080.1:n.947-2373A>G | |
| NM_172084.3:c.946+3655A>G | NP_742081.1:n.946+3655A>G | |
| NM_172079.3:c.947-2373A>G | NP_742076.1:n.947-2373A>G |