Linked Data
ClinVar Variation Id:
9458
dbSNP Id:
rs137852609
gnomAD v2:
21-46309291-G-A
gnomAD v3:
21-44889376-G-A
gnomAD v4:
21-44889376-G-A
PubMed:
PMID:1968911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44889376G>A , CM000683.2:g.44889376G>A | GRCh38 |
| NC_000021.8:g.46309291G>A , CM000683.1:g.46309291G>A | GRCh37 |
| NC_000021.7:g.45133719G>A | NCBI36 |
| NG_007270.2:g.44463C>T , LRG_76:g.44463C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696946.1:n.984C>T | ||
| ENST00000302347.10:c.1849C>T | ENSP00000303242.6:p.Arg617Cys | |
| ENST00000652462.1:c.1777C>T MANE Select | ENSP00000498780.1:p.Arg593Cys | |
| ENST00000302347.9:c.1777C>T | ENSP00000303242.5:p.Arg593Cys | |
| ENST00000355153.8:c.1777C>T | ENSP00000347279.4:p.Arg593Cys | |
| ENST00000397850.6:c.1777C>T | ENSP00000380948.2:p.Arg593Cys | |
| ENST00000397852.5:c.1777C>T | ENSP00000380950.1:p.Arg593Cys | |
| ENST00000397854.7:c.1606C>T | ENSP00000380952.3:p.Arg536Cys | |
| ENST00000397857.5:c.1777C>T | ENSP00000380955.1:p.Arg593Cys | |
| ENST00000475170.5:n.1177C>T | ||
| ENST00000498666.5:n.3833C>T | ||
| ENST00000523323.5:c.*1604C>T | ENSP00000427732.1:n.*1604C>T | |
| ENST00000610622.4:c.*468C>T | ENSP00000480700.1:n.*468C>T | |
| NM_000211.4:c.1777C>T | NP_000202.3:p.Arg593Cys | |
| NM_001127491.2:c.1777C>T | NP_001120963.2:p.Arg593Cys | |
| NM_001303238.1:c.1570C>T | NP_001290167.1:p.Arg524Cys | |
| XM_006724001.1:c.1570C>T | XP_006724064.1:p.Arg524Cys | |
| XM_006724001.2:c.1570C>T | XP_006724064.1:p.Arg524Cys | |
| NM_000211.5:c.1777C>T MANE Select | NP_000202.3:p.Arg593Cys | |
| NM_001127491.3:c.1777C>T | NP_001120963.2:p.Arg593Cys | |
| NM_001303238.2:c.1570C>T | NP_001290167.1:p.Arg524Cys |