Linked Data
ClinVar Variation Id:
254126
dbSNP Id:
rs886037887
gnomAD v4:
5-14690175-A-G
PubMed:
PMID:27559085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14690175A>G , CM000667.2:g.14690175A>G | GRCh38 |
| NC_000005.9:g.14690284A>G , CM000667.1:g.14690284A>G | GRCh37 |
| NC_000005.8:g.14743284A>G | NCBI36 |
| NG_051625.1:g.34382A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503023.2:c.*477A>G | ENSP00000427016.1:n.*477A>G | |
| ENST00000697367.1:c.559A>G | ENSP00000513279.1:n.559A>G | |
| ENST00000284274.5:c.731A>G MANE Select | ENSP00000284274.4:p.Tyr244Cys | |
| ENST00000284274.4:c.731A>G | ENSP00000284274.4:p.Tyr244Cys | |
| ENST00000503023.1:c.*477A>G | ENSP00000427016.1:n.*477A>G | |
| ENST00000506417.1:c.59-2679A>G | ||
| NM_138348.4:c.731A>G | NP_612357.4:p.Tyr244Cys | |
| XM_011514151.1:c.731A>G | XP_011512453.1:p.Tyr244Cys | |
| XM_011514152.1:c.731A>G | XP_011512454.1:p.Tyr244Cys | |
| XM_011514153.1:c.677A>G | XP_011512455.1:p.Tyr226Cys | |
| XM_011514154.1:c.594+2529A>G | XP_011512456.1:n.594+2529A>G | |
| NM_138348.5:c.731A>G | NP_612357.4:p.Tyr244Cys | |
| XM_011514151.2:c.731A>G | XP_011512453.1:p.Tyr244Cys | |
| XM_011514152.2:c.731A>G | XP_011512454.1:p.Tyr244Cys | |
| XM_011514154.2:c.594+2529A>G | XP_011512456.1:n.594+2529A>G | |
| XM_017010015.1:c.476A>G | XP_016865504.1:p.Tyr159Cys | |
| NM_138348.6:c.731A>G MANE Select | NP_612357.4:p.Tyr244Cys |