Linked Data
dbSNP Id:
rs375201505
ExAC:
4:72622499 C / T
gnomAD v2:
4-72622499-C-T
gnomAD v3:
4-71756782-C-T
gnomAD v4:
4-71756782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71756782C>T , CM000666.2:g.71756782C>T | GRCh38 |
| NC_000004.11:g.72622499C>T , CM000666.1:g.72622499C>T | GRCh37 |
| NC_000004.10:g.72841363C>T | NCBI36 |
| NG_012837.2:g.53739G>A | |
| NG_012837.3:g.53739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.964G>A MANE Select | ENSP00000273951.8:p.Glu322Lys | |
| ENST00000273951.12:c.964G>A | ENSP00000273951.8:p.Glu322Lys | |
| ENST00000503472.5:n.848G>A | ||
| ENST00000504199.5:c.1021G>A | ENSP00000421725.1:p.Glu341Lys | |
| ENST00000509740.5:c.964G>A | ENSP00000422664.1:p.Glu322Lys | |
| ENST00000513476.5:c.964G>A | ENSP00000426683.1:p.Glu322Lys | |
| NM_000583.3:c.964G>A | NP_000574.2:p.Glu322Lys | |
| NM_001204306.1:c.964G>A | NP_001191235.1:p.Glu322Lys | |
| NM_001204307.1:c.1021G>A | NP_001191236.1:p.Glu341Lys | |
| XM_006714177.2:c.964G>A | XP_006714240.1:p.Glu322Lys | |
| XM_006714177.3:c.964G>A | XP_006714240.1:p.Glu322Lys | |
| NM_000583.4:c.964G>A MANE Select | NP_000574.2:p.Glu322Lys |