Linked Data
dbSNP Id:
rs760805
gnomAD v2:
1-25251923-A-T
gnomAD v3:
1-24925432-A-T
gnomAD v4:
1-24925432-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24925432A>T , CM000663.2:g.24925432A>T | GRCh38 |
| NC_000001.10:g.25251923A>T , CM000663.1:g.25251923A>T | GRCh37 |
| NC_000001.9:g.25124510A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338888.4:c.481+2142T>A | ENSP00000343477.3:n.481+2142T>A | |
| ENST00000308873.11:c.439+2142T>A MANE Select | ENSP00000308051.6:n.439+2142T>A | |
| ENST00000308873.10:c.439+2142T>A | ENSP00000308051.6:n.439+2142T>A | |
| ENST00000338888.3:c.481+2142T>A | ENSP00000343477.3:n.481+2142T>A | |
| ENST00000399916.5:c.481+2142T>A | ENSP00000382800.1:n.481+2142T>A | |
| ENST00000496967.1:n.213+2142T>A | ||
| NM_001031680.2:c.481+2142T>A | NP_001026850.1:n.481+2142T>A | |
| NM_004350.2:c.439+2142T>A | NP_004341.1:n.439+2142T>A | |
| XM_005246024.3:c.481+2142T>A | XP_005246081.1:n.481+2142T>A | |
| XM_011542351.1:c.481+2142T>A | XP_011540653.1:n.481+2142T>A | |
| NM_001320672.1:c.481+2142T>A | NP_001307601.1:n.481+2142T>A | |
| XM_005246024.4:c.481+2142T>A | XP_005246081.1:n.481+2142T>A | |
| XR_001737942.1:n.1104A>T | ||
| NM_004350.3:c.439+2142T>A MANE Select | NP_004341.1:n.439+2142T>A |