Linked Data
dbSNP Id:
rs768664857
ExAC:
1:161822991 A / C
gnomAD v2:
1-161822991-A-C
gnomAD v4:
1-161853201-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161853201A>C , CM000663.2:g.161853201A>C | GRCh38 |
| NC_000001.10:g.161822991A>C , CM000663.1:g.161822991A>C | GRCh37 |
| NC_000001.9:g.160089615A>C | NCBI36 |
| NG_029773.1:g.91958A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.1434-23A>C MANE Select | ENSP00000356919.3:n.1434-23A>C | |
| ENST00000679833.1:c.1434-23A>C | ENSP00000505321.1:n.1434-23A>C | |
| ENST00000679853.1:c.1434-23A>C | ENSP00000506149.1:n.1434-23A>C | |
| ENST00000679886.1:c.828-23A>C | ENSP00000506559.1:n.828-23A>C | |
| ENST00000680180.1:n.1474-23A>C | ||
| ENST00000680462.1:c.1434-23A>C | ENSP00000505583.1:n.1434-23A>C | |
| ENST00000680481.1:c.*1057-23A>C | ENSP00000505919.1:n.*1057-23A>C | |
| ENST00000680688.1:c.1491-23A>C | ENSP00000504865.1:n.1491-23A>C | |
| ENST00000681001.1:c.*1286-23A>C | ENSP00000506145.1:n.*1286-23A>C | |
| ENST00000681036.1:c.1236-23A>C | ENSP00000505474.1:n.1236-23A>C | |
| ENST00000681169.1:c.*352-23A>C | ENSP00000505455.1:n.*352-23A>C | |
| ENST00000681187.1:n.1474-23A>C | ||
| ENST00000681492.1:c.1434-23A>C | ENSP00000506139.1:n.1434-23A>C | |
| ENST00000681541.1:c.1236-23A>C | ENSP00000506087.1:n.1236-23A>C | |
| ENST00000681557.1:c.*1235-23A>C | ENSP00000506229.1:n.*1235-23A>C | |
| ENST00000681738.1:c.1434-23A>C | ENSP00000505025.1:n.1434-23A>C | |
| ENST00000681779.1:n.1484-23A>C | ||
| ENST00000681801.1:c.1434-23A>C | ENSP00000505998.1:n.1434-23A>C | |
| ENST00000681912.1:c.1050-23A>C | ENSP00000505875.1:n.1050-23A>C | |
| ENST00000367942.3:c.1434-23A>C | ENSP00000356919.3:n.1434-23A>C | |
| ENST00000476437.1:n.641-23A>C | ||
| NM_007348.3:c.1434-23A>C | NP_031374.2:n.1434-23A>C | |
| XM_006711224.1:c.1434-23A>C | XP_006711287.1:n.1434-23A>C | |
| XM_011509308.1:c.1491-23A>C | XP_011507610.1:n.1491-23A>C | |
| XM_011509309.1:c.1491-23A>C | XP_011507611.1:n.1491-23A>C | |
| XM_011509310.1:c.1491-23A>C | XP_011507612.1:n.1491-23A>C | |
| XM_011509310.2:c.1491-23A>C | XP_011507612.1:n.1491-23A>C | |
| NM_007348.4:c.1434-23A>C MANE Select | NP_031374.2:n.1434-23A>C |