Linked Data
dbSNP Id:
rs774672725
ExAC:
4:72622474 G / A
gnomAD v2:
4-72622474-G-A
gnomAD v3:
4-71756757-G-A
gnomAD v4:
4-71756757-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71756757G>A , CM000666.2:g.71756757G>A | GRCh38 |
| NC_000004.11:g.72622474G>A , CM000666.1:g.72622474G>A | GRCh37 |
| NC_000004.10:g.72841338G>A | NCBI36 |
| NG_012837.2:g.53764C>T | |
| NG_012837.3:g.53764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.989C>T MANE Select | ENSP00000273951.8:p.Thr330Ile | |
| ENST00000273951.12:c.989C>T | ENSP00000273951.8:p.Thr330Ile | |
| ENST00000503472.5:n.873C>T | ||
| ENST00000504199.5:c.1046C>T | ENSP00000421725.1:p.Thr349Ile | |
| ENST00000509740.5:c.989C>T | ENSP00000422664.1:p.Thr330Ile | |
| ENST00000513476.5:c.989C>T | ENSP00000426683.1:p.Thr330Ile | |
| NM_000583.3:c.989C>T | NP_000574.2:p.Thr330Ile | |
| NM_001204306.1:c.989C>T | NP_001191235.1:p.Thr330Ile | |
| NM_001204307.1:c.1046C>T | NP_001191236.1:p.Thr349Ile | |
| XM_006714177.2:c.989C>T | XP_006714240.1:p.Thr330Ile | |
| XM_006714177.3:c.989C>T | XP_006714240.1:p.Thr330Ile | |
| NM_000583.4:c.989C>T MANE Select | NP_000574.2:p.Thr330Ile |