Linked Data
dbSNP Id:
rs10918215
gnomAD v2:
1-161899731-G-A
gnomAD v3:
1-161929941-G-A
gnomAD v4:
1-161929941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161929941G>A , CM000663.2:g.161929941G>A | GRCh38 |
| NC_000001.10:g.161899731G>A , CM000663.1:g.161899731G>A | GRCh37 |
| NC_000001.9:g.160166355G>A | NCBI36 |
| NG_029773.1:g.168698G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367942.4:c.1804+17561G>A MANE Select | ENSP00000356919.3:n.1804+17561G>A | |
| ENST00000679853.1:c.1801+17561G>A | ENSP00000506149.1:n.1801+17561G>A | |
| ENST00000679886.1:c.1198+17561G>A | ENSP00000506559.1:n.1198+17561G>A | |
| ENST00000680481.1:c.*1514+17561G>A | ENSP00000505919.1:n.*1514+17561G>A | |
| ENST00000680688.1:c.1861+17561G>A | ENSP00000504865.1:n.1861+17561G>A | |
| ENST00000681001.1:c.*1656+17561G>A | ENSP00000506145.1:n.*1656+17561G>A | |
| ENST00000681036.1:c.1606+17561G>A | ENSP00000505474.1:n.1606+17561G>A | |
| ENST00000681169.1:c.*722+17561G>A | ENSP00000505455.1:n.*722+17561G>A | |
| ENST00000681492.1:c.1894+17561G>A | ENSP00000506139.1:n.1894+17561G>A | |
| ENST00000681541.1:c.1606+17561G>A | ENSP00000506087.1:n.1606+17561G>A | |
| ENST00000681557.1:c.*1605+17561G>A | ENSP00000506229.1:n.*1605+17561G>A | |
| ENST00000681738.1:c.1804+17561G>A | ENSP00000505025.1:n.1804+17561G>A | |
| ENST00000681779.1:n.1855-6437G>A | ||
| ENST00000681801.1:c.1804+17561G>A | ENSP00000505998.1:n.1804+17561G>A | |
| ENST00000681912.1:c.1420+17561G>A | ENSP00000505875.1:n.1420+17561G>A | |
| ENST00000367942.3:c.1804+17561G>A | ENSP00000356919.3:n.1804+17561G>A | |
| NM_007348.3:c.1804+17561G>A | NP_031374.2:n.1804+17561G>A | |
| XM_006711224.1:c.1801+17561G>A | XP_006711287.1:n.1801+17561G>A | |
| XM_011509308.1:c.1861+17561G>A | XP_011507610.1:n.1861+17561G>A | |
| XM_011509309.1:c.1858+17561G>A | XP_011507611.1:n.1858+17561G>A | |
| NM_007348.4:c.1804+17561G>A MANE Select | NP_031374.2:n.1804+17561G>A |