Linked Data
ClinVar Variation Id:
468
ClinVar RCV Id:
RCV000000497
dbSNP Id:
rs118204426
PubMed:
PMID:2203259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425532G>T , CM000671.2:g.101425532G>T | GRCh38 |
| NC_000009.11:g.104187814G>T , CM000671.1:g.104187814G>T | GRCh37 |
| NC_000009.10:g.103227635G>T | NCBI36 |
| NG_012387.1:g.15249C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.720C>A MANE Select | ENSP00000497767.1:p.Cys240Ter | |
| ENST00000648064.1:c.720C>A | ENSP00000497990.1:p.Cys240Ter | |
| ENST00000648758.1:c.720C>A | ENSP00000497731.1:p.Cys240Ter | |
| ENST00000649902.1:c.720C>A | ENSP00000497216.1:p.Cys240Ter | |
| ENST00000374855.8:c.720C>A | ENSP00000363988.4:p.Cys240Ter | |
| ENST00000616752.1:c.720C>A | ENSP00000481363.1:p.Cys240Ter | |
| NM_000035.3:c.720C>A | NP_000026.2:p.Cys240Ter | |
| NM_000035.4:c.720C>A MANE Select | NP_000026.2:p.Cys240Ter |