Linked Data
ClinVar Variation Id:
8568
ClinVar RCV Id:
RCV000009099
dbSNP Id:
rs121912570
PubMed:
PMID:14715854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148435553A>T , CM000666.2:g.148435553A>T | GRCh38 |
| NC_000004.11:g.149356705A>T , CM000666.1:g.149356705A>T | GRCh37 |
| NC_000004.10:g.149576155A>T | NCBI36 |
| NG_013350.1:g.11968T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.1308T>A MANE Select | ENSP00000350815.3:p.Cys436Ter | |
| ENST00000342437.8:c.1308T>A | ENSP00000343907.4:p.Cys436Ter | |
| ENST00000344721.8:c.1308T>A | ENSP00000341390.4:p.Cys436Ter | |
| ENST00000358102.7:c.1308T>A | ENSP00000350815.3:p.Cys436Ter | |
| ENST00000511528.1:c.1308T>A | ENSP00000421481.1:p.Cys436Ter | |
| ENST00000512865.5:c.1308T>A | ENSP00000423510.1:p.Cys436Ter | |
| ENST00000625323.2:c.1308T>A | ENSP00000486719.1:p.Cys436Ter | |
| NM_000901.4:c.1308T>A | NP_000892.2:p.Cys436Ter | |
| NM_001166104.1:c.1308T>A | NP_001159576.1:p.Cys436Ter | |
| XM_011531975.1:c.1308T>A | XP_011530277.1:p.Cys436Ter | |
| XM_011531976.1:c.1308T>A | XP_011530278.1:p.Cys436Ter | |
| XM_011531977.1:c.1308T>A | XP_011530279.1:p.Cys436Ter | |
| XM_011531978.1:c.1308T>A | XP_011530280.1:p.Cys436Ter | |
| NM_001354819.1:c.1308T>A | NP_001341748.1:p.Cys436Ter | |
| NR_148974.1:n.1671T>A | ||
| XM_011531978.2:c.1308T>A | XP_011530280.1:p.Cys436Ter | |
| NM_000901.5:c.1308T>A MANE Select | NP_000892.2:p.Cys436Ter | |
| NM_001166104.2:c.1308T>A | NP_001159576.1:p.Cys436Ter | |
| NR_148974.2:n.1565T>A |