Linked Data
dbSNP Id:
rs34815962
ExAC:
15:72462255 C / T
gnomAD v2:
15-72462255-C-T
gnomAD v3:
15-72169914-C-T
gnomAD v4:
15-72169914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72169914C>T , CM000677.2:g.72169914C>T | GRCh38 |
| NC_000015.9:g.72462255C>T , CM000677.1:g.72462255C>T | GRCh37 |
| NC_000015.8:g.70249309C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309731.12:c.67G>A MANE Select | ENSP00000311657.7:p.Ala23Thr | |
| ENST00000309731.11:c.67G>A | ENSP00000311657.7:p.Ala23Thr | |
| ENST00000562288.1:c.31G>A | ENSP00000457155.1:p.Ala11Thr | |
| ENST00000563133.5:n.222G>A | ||
| ENST00000564129.5:c.37G>A | ENSP00000457660.1:p.Ala13Thr | |
| ENST00000568594.5:c.46G>A | ENSP00000457383.1:p.Ala16Thr | |
| ENST00000570275.5:c.31G>A | ENSP00000457088.1:p.Ala11Thr | |
| NM_001012642.2:c.67G>A | NP_001012660.1:p.Ala23Thr | |
| XM_011521327.1:c.64G>A | XP_011519629.1:p.Ala22Thr | |
| XM_011521328.1:c.61G>A | XP_011519630.1:p.Ala21Thr | |
| XM_011521329.1:c.37G>A | XP_011519631.1:p.Ala13Thr | |
| XM_011521330.1:c.31G>A | XP_011519632.1:p.Ala11Thr | |
| XM_011521331.1:c.67G>A | XP_011519633.1:p.Ala23Thr | |
| XM_011521332.1:c.-189G>A | XP_011519634.1:n.-189G>A | |
| XM_011521333.1:c.-189G>A | XP_011519635.1:n.-189G>A | |
| XM_011521327.2:c.64G>A | XP_011519629.1:p.Ala22Thr | |
| XM_011521328.3:c.61G>A | XP_011519630.1:p.Ala21Thr | |
| XM_011521329.2:c.37G>A | XP_011519631.1:p.Ala13Thr | |
| XM_011521330.2:c.31G>A | XP_011519632.1:p.Ala11Thr | |
| XM_011521331.2:c.67G>A | XP_011519633.1:p.Ala23Thr | |
| XM_011521332.3:c.-189G>A | XP_011519634.1:n.-189G>A | |
| XM_011521333.3:c.-189G>A | XP_011519635.1:n.-189G>A | |
| XM_017021997.1:c.-173G>A | XP_016877486.1:n.-173G>A | |
| XM_017021998.1:c.-173G>A | XP_016877487.1:n.-173G>A | |
| XM_024449868.1:c.16G>A | XP_024305636.1:p.Ala6Thr | |
| NM_001012642.3:c.67G>A MANE Select | NP_001012660.1:p.Ala23Thr |