gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34886947 (MID)
Genomes Max Group AF
0.31457371 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31146405A>G , CM000668.2:g.31146405A>G | GRCh38 |
| NC_000006.11:g.31114182A>G , CM000668.1:g.31114182A>G | GRCh37 |
| NC_000006.10:g.31222161A>G | NCBI36 |
| NG_054878.1:g.16834T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396268.8:c.1581-597T>C MANE Select | ENSP00000379566.3:n.1581-597T>C | |
| ENST00000652427.1:c.*267-597T>C | ENSP00000498342.1:n.*267-597T>C | |
| ENST00000652535.1:c.*312-597T>C | ENSP00000498479.1:n.*312-597T>C | |
| ENST00000376266.9:c.1314-597T>C | ENSP00000365442.5:n.1314-597T>C | |
| ENST00000396263.6:c.1314-1103T>C | ENSP00000379561.2:n.1314-1103T>C | |
| ENST00000396268.7:c.1581-597T>C | ENSP00000379566.3:n.1581-597T>C | |
| ENST00000451521.6:c.1473-597T>C | ENSP00000401039.2:n.1473-597T>C | |
| ENST00000509552.5:n.1455-597T>C | ||
| NM_001105563.1:c.1473-597T>C | NP_001099033.1:n.1473-597T>C | |
| NM_001105564.1:c.1581-597T>C | NP_001099034.1:n.1581-597T>C | |
| NM_019052.3:c.1314-597T>C | NP_061925.2:n.1314-597T>C | |
| XM_011514702.1:c.1500-597T>C | XP_011513004.1:n.1500-597T>C | |
| XM_011514703.1:c.1314-597T>C | XP_011513005.1:n.1314-597T>C | |
| XM_011514704.1:c.1206-597T>C | XP_011513006.1:n.1206-597T>C | |
| XM_011514705.1:c.1206-597T>C | XP_011513007.1:n.1206-597T>C | |
| XM_011514706.1:c.1314-597T>C | XP_011513008.1:n.1314-597T>C | |
| XM_011514702.2:c.1500-597T>C | XP_011513004.1:n.1500-597T>C | |
| XM_011514704.3:c.1206-597T>C | XP_011513006.1:n.1206-597T>C | |
| XM_017010961.1:c.1608-597T>C | XP_016866450.1:n.1608-597T>C | |
| XM_017010962.2:c.1314-597T>C | XP_016866451.1:n.1314-597T>C | |
| XM_017010963.1:c.1314-597T>C | XP_016866452.1:n.1314-597T>C | |
| XM_017010964.1:c.1314-597T>C | XP_016866453.1:n.1314-597T>C | |
| XM_017010965.1:c.1314-597T>C | XP_016866454.1:n.1314-597T>C | |
| XM_017010966.1:c.1314-597T>C | XP_016866455.1:n.1314-597T>C | |
| XM_017010967.1:c.1314-597T>C | XP_016866456.1:n.1314-597T>C | |
| XM_017010968.1:c.1314-597T>C | XP_016866457.1:n.1314-597T>C | |
| XM_017010969.1:c.1206-597T>C | XP_016866458.1:n.1206-597T>C | |
| XM_017010970.1:c.486-597T>C | XP_016866459.1:n.486-597T>C | |
| XM_024446473.1:c.1392-597T>C | XP_024302241.1:n.1392-597T>C | |
| NM_019052.4:c.1314-597T>C | NP_061925.2:n.1314-597T>C | |
| NM_001105563.2:c.1473-597T>C | NP_001099033.1:n.1473-597T>C | |
| NM_001105563.3:c.1473-597T>C | NP_001099033.1:n.1473-597T>C | |
| NM_001105564.2:c.1581-597T>C MANE Select | NP_001099034.1:n.1581-597T>C | |
| NM_001394641.1:c.1608-597T>C | NP_001381570.1:n.1608-597T>C | |
| NM_001394642.1:c.1314-597T>C | NP_001381571.1:n.1314-597T>C | |
| NM_001394643.1:c.1314-597T>C | NP_001381572.1:n.1314-597T>C | |
| NM_001394644.1:c.1314-597T>C | NP_001381573.1:n.1314-597T>C | |
| NM_001394646.1:c.1305-597T>C | NP_001381575.1:n.1305-597T>C | |
| NM_001394647.1:c.1236-597T>C | NP_001381576.1:n.1236-597T>C | |
| NM_001394648.1:c.1206-597T>C | NP_001381577.1:n.1206-597T>C | |
| NM_001394649.1:c.957-597T>C | NP_001381578.1:n.957-597T>C |