Linked Data
dbSNP Id:
rs373189673
ExAC:
2:202072929 A / C
gnomAD v2:
2-202072929-A-C
gnomAD v4:
2-201208206-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201208206A>C , CM000664.2:g.201208206A>C | GRCh38 |
| NC_000002.11:g.202072929A>C , CM000664.1:g.202072929A>C | GRCh37 |
| NC_000002.10:g.201781174A>C | NCBI36 |
| NG_007265.1:g.30075A>C , LRG_33:g.30075A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.722-864A>C | ENSP00000314599.7:n.722-864A>C | |
| ENST00000346817.10:c.793+23A>C | ENSP00000237865.7:n.793+23A>C | |
| ENST00000438843.6:c.*379+23A>C | ENSP00000401914.1:n.*379+23A>C | |
| ENST00000492363.6:c.*8+23A>C | ENSP00000512459.1:n.*8+23A>C | |
| ENST00000696199.1:c.721+4440A>C | ENSP00000512481.1:n.721+4440A>C | |
| ENST00000286186.11:c.922+23A>C MANE Select | ENSP00000286186.6:n.922+23A>C | |
| ENST00000272879.9:c.922+23A>C | ENSP00000272879.5:n.922+23A>C | |
| ENST00000286186.10:c.922+23A>C | ENSP00000286186.6:n.922+23A>C | |
| ENST00000313728.11:c.722-864A>C | ENSP00000314599.7:n.722-864A>C | |
| ENST00000346817.9:c.793+23A>C | ENSP00000237865.7:n.793+23A>C | |
| ENST00000360132.7:c.*8+23A>C | ENSP00000353250.3:n.*8+23A>C | |
| ENST00000448480.1:c.793+23A>C | ENSP00000396835.1:n.793+23A>C | |
| ENST00000492363.5:n.830+23A>C | ||
| NM_001206524.1:c.722-864A>C | NP_001193453.1:n.722-864A>C | |
| NM_001206542.1:c.793+23A>C | NP_001193471.1:n.793+23A>C | |
| NM_001230.4:c.793+23A>C | NP_001221.2:n.793+23A>C | |
| NM_032974.4:c.922+23A>C | NP_116756.2:n.922+23A>C | |
| NM_032976.3:c.*8+23A>C | NP_116758.1:n.*8+23A>C | |
| NM_032977.3:c.922+23A>C , LRG_33t1:c.922+23A>C | NP_116759.2:n.922+23A>C | |
| XM_005246907.2:c.919+23A>C | XP_005246964.1:n.919+23A>C | |
| XM_006712796.2:c.172+23A>C | XP_006712859.1:n.172+23A>C | |
| XM_011511990.1:c.*8+23A>C | XP_011510292.1:n.*8+23A>C | |
| XR_923043.1:n.1126+23A>C | ||
| XR_923044.1:n.1034+23A>C | ||
| XM_006712796.3:c.172+23A>C | XP_006712859.1:n.172+23A>C | |
| XM_011511990.2:c.*8+23A>C | XP_011510292.1:n.*8+23A>C | |
| XR_923043.2:n.1126+23A>C | ||
| XR_923044.2:n.1034+23A>C | ||
| NM_001206524.2:c.722-864A>C | NP_001193453.1:n.722-864A>C | |
| NM_001206542.2:c.793+23A>C | NP_001193471.1:n.793+23A>C | |
| NM_001230.5:c.793+23A>C | NP_001221.2:n.793+23A>C | |
| NM_032974.5:c.922+23A>C | NP_116756.2:n.922+23A>C | |
| NM_032977.4:c.922+23A>C MANE Select | NP_116759.2:n.922+23A>C | |
| NM_032976.4:c.*8+23A>C | NP_116758.1:n.*8+23A>C |