Linked Data
dbSNP Id:
rs750857462
gnomAD v2:
15-45003389-G-A
gnomAD v3:
15-44711191-G-A
gnomAD v4:
15-44711191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711191G>A , CM000677.2:g.44711191G>A | GRCh38 |
| NC_000015.9:g.45003389G>A , CM000677.1:g.45003389G>A | GRCh37 |
| NC_000015.8:g.42790681G>A | NCBI36 |
| NG_012920.1:g.4705G>A | |
| NG_012920.2:g.4715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-425C>T MANE Select | ENSP00000508024.1:n.-425C>T | |
| ENST00000558573.1:n.126C>T | ||
| XM_011521338.1:c.-425C>T | XP_011519640.1:n.-425C>T | |
| XM_011521339.1:c.-306C>T | XP_011519641.1:n.-306C>T | |
| XM_011521340.1:c.-247C>T | XP_011519642.1:n.-247C>T | |
| XM_011521343.1:c.-509C>T | XP_011519645.1:n.-509C>T | |
| XM_011521345.1:c.-480C>T | XP_011519647.1:n.-480C>T | |
| XM_011521338.3:c.-425C>T | XP_011519640.1:n.-425C>T | |
| XM_011521339.3:c.-306C>T | XP_011519641.1:n.-306C>T | |
| XM_011521340.3:c.-247C>T | XP_011519642.1:n.-247C>T | |
| XM_011521343.3:c.-509C>T | XP_011519645.1:n.-509C>T | |
| XM_011521345.3:c.-480C>T | XP_011519647.1:n.-480C>T | |
| NM_001387260.1:c.-76+141C>T | NP_001374189.1:n.-76+141C>T | |
| NM_001387261.1:c.-247C>T | NP_001374190.1:n.-247C>T | |
| NM_001387262.1:c.-515C>T | NP_001374191.1:n.-515C>T | |
| NM_001387263.1:c.-425C>T MANE Select | NP_001374192.1:n.-425C>T |