Linked Data
dbSNP Id:
rs763063027
gnomAD v2:
15-45003482-G-A
gnomAD v3:
15-44711284-G-A
gnomAD v4:
15-44711284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711284G>A , CM000677.2:g.44711284G>A | GRCh38 |
| NC_000015.9:g.45003482G>A , CM000677.1:g.45003482G>A | GRCh37 |
| NC_000015.8:g.42790774G>A | NCBI36 |
| NG_012920.1:g.4798G>A | |
| NG_012920.2:g.4808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-518C>T MANE Select | ENSP00000508024.1:n.-518C>T | |
| ENST00000558573.1:n.33C>T | ||
| XM_011521338.1:c.-518C>T | XP_011519640.1:n.-518C>T | |
| XM_011521339.1:c.-399C>T | XP_011519641.1:n.-399C>T | |
| XM_011521340.1:c.-340C>T | XP_011519642.1:n.-340C>T | |
| XM_011521343.1:c.-602C>T | XP_011519645.1:n.-602C>T | |
| XM_011521345.1:c.-573C>T | XP_011519647.1:n.-573C>T | |
| XM_011521338.3:c.-518C>T | XP_011519640.1:n.-518C>T | |
| XM_011521339.3:c.-399C>T | XP_011519641.1:n.-399C>T | |
| XM_011521340.3:c.-340C>T | XP_011519642.1:n.-340C>T | |
| XM_011521343.3:c.-602C>T | XP_011519645.1:n.-602C>T | |
| XM_011521345.3:c.-573C>T | XP_011519647.1:n.-573C>T | |
| NM_001387260.1:c.-76+48C>T | NP_001374189.1:n.-76+48C>T | |
| NM_001387261.1:c.-340C>T | NP_001374190.1:n.-340C>T | |
| NM_001387262.1:c.-608C>T | NP_001374191.1:n.-608C>T | |
| NM_001387263.1:c.-518C>T MANE Select | NP_001374192.1:n.-518C>T |