Linked Data
dbSNP Id:
rs1275671644
gnomAD v4:
15-44711300-G-A
MyVariant Identifiers:
chr15:g.45003498G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711300G>A , CM000677.2:g.44711300G>A | GRCh38 |
| NC_000015.9:g.45003498G>A , CM000677.1:g.45003498G>A | GRCh37 |
| NC_000015.8:g.42790790G>A | NCBI36 |
| NG_012920.1:g.4814G>A | |
| NG_012920.2:g.4824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-534C>T MANE Select | ENSP00000508024.1:n.-534C>T | |
| ENST00000558573.1:n.17C>T | ||
| XM_011521338.1:c.-534C>T | XP_011519640.1:n.-534C>T | |
| XM_011521339.1:c.-415C>T | XP_011519641.1:n.-415C>T | |
| XM_011521340.1:c.-356C>T | XP_011519642.1:n.-356C>T | |
| XM_011521343.1:c.-618C>T | XP_011519645.1:n.-618C>T | |
| XM_011521345.1:c.-589C>T | XP_011519647.1:n.-589C>T | |
| XM_011521338.3:c.-534C>T | XP_011519640.1:n.-534C>T | |
| XM_011521339.3:c.-415C>T | XP_011519641.1:n.-415C>T | |
| XM_011521340.3:c.-356C>T | XP_011519642.1:n.-356C>T | |
| XM_011521343.3:c.-618C>T | XP_011519645.1:n.-618C>T | |
| XM_011521345.3:c.-589C>T | XP_011519647.1:n.-589C>T | |
| NM_001387260.1:c.-76+32C>T | NP_001374189.1:n.-76+32C>T | |
| NM_001387261.1:c.-356C>T | NP_001374190.1:n.-356C>T | |
| NM_001387262.1:c.-624C>T | NP_001374191.1:n.-624C>T | |
| NM_001387263.1:c.-534C>T MANE Select | NP_001374192.1:n.-534C>T |