Linked Data
ClinVar Variation Id:
30576
ClinVar RCV Id:
RCV000023539
dbSNP Id:
rs387906938
gnomAD v4:
1-54883698-G-A
COSMIC:
COSM1639920
PubMed:
PMID:21559050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54883698G>A , CM000663.2:g.54883698G>A | GRCh38 |
| NC_000001.10:g.55349371G>A , CM000663.1:g.55349371G>A | GRCh37 |
| NC_000001.9:g.55121959G>A | NCBI36 |
| NG_008839.1:g.8551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371269.9:c.307C>T MANE Select | ENSP00000360316.3:p.Arg103Cys | |
| ENST00000436604.2:c.307C>T | ENSP00000416585.2:p.Arg103Cys | |
| ENST00000535035.6:c.307C>T | ENSP00000440191.3:p.Arg103Cys | |
| ENST00000647585.1:n.111C>T | ||
| ENST00000647912.1:c.307C>T | ENSP00000497559.1:p.Arg103Cys | |
| ENST00000648182.1:c.184C>T | ENSP00000498045.1:p.Arg62Cys | |
| ENST00000648494.1:n.383C>T | ||
| ENST00000648641.1:n.153C>T | ||
| ENST00000648712.1:n.165C>T | ||
| ENST00000648728.1:c.307C>T | ENSP00000497084.1:p.Arg103Cys | |
| ENST00000649769.1:c.307C>T | ENSP00000498012.1:p.Arg103Cys | |
| ENST00000650362.1:c.40C>T | ENSP00000497612.1:p.Arg14Cys | |
| ENST00000371269.7:c.307C>T | ENSP00000360316.3:p.Arg103Cys | |
| ENST00000535035.5:c.40C>T | ENSP00000440191.2:p.Arg14Cys | |
| NM_014762.3:c.307C>T | NP_055577.1:p.Arg103Cys | |
| NM_014762.4:c.307C>T MANE Select | NP_055577.1:p.Arg103Cys |