Linked Data
dbSNP Id:
rs772476746
ExAC:
15:52446212 G / T
gnomAD v2:
15-52446212-G-T
gnomAD v4:
15-52154015-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52154015G>T , CM000677.2:g.52154015G>T | GRCh38 |
| NC_000015.9:g.52446212G>T , CM000677.1:g.52446212G>T | GRCh37 |
| NC_000015.8:g.50233504G>T | NCBI36 |
| NG_052868.1:g.42354C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261837.12:c.300C>A MANE Select | ENSP00000261837.7:p.Thr100= | |
| ENST00000261837.11:c.300C>A | ENSP00000261837.7:p.Thr100= | |
| ENST00000358784.11:c.174C>A | ENSP00000351635.7:p.Thr58= | |
| ENST00000396335.8:c.174C>A | ENSP00000379626.4:p.Thr58= | |
| ENST00000560075.1:n.331C>A | ||
| ENST00000560116.1:c.174C>A | ENSP00000453176.1:p.Thr58= | |
| ENST00000561313.5:c.174C>A | ENSP00000454185.1:p.Thr58= | |
| NM_006578.3:c.174C>A | NP_006569.1:p.Thr58= | |
| NM_016194.3:c.300C>A | NP_057278.2:p.Thr100= | |
| XM_011521162.1:c.174C>A | XP_011519464.1:p.Thr58= | |
| XM_011521163.1:c.18C>A | XP_011519465.1:p.Thr6= | |
| XM_011521162.3:c.174C>A | XP_011519464.1:p.Thr58= | |
| XM_011521163.3:c.18C>A | XP_011519465.1:p.Thr6= | |
| XR_001751060.2:n.252C>A | ||
| NM_006578.4:c.174C>A | NP_006569.1:p.Thr58= | |
| NM_016194.4:c.300C>A MANE Select | NP_057278.2:p.Thr100= | |
| NM_001379343.1:c.18C>A | NP_001366272.1:p.Thr6= |