Linked Data
ClinVar Variation Id:
13176
ClinVar RCV Id:
RCV002508121
dbSNP Id:
rs121918566
PubMed:
PMID:9338584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698389C>T , CM000668.2:g.42698389C>T | GRCh38 |
| NC_000006.11:g.42666127C>T , CM000668.1:g.42666127C>T | GRCh37 |
| NC_000006.10:g.42774105C>T | NCBI36 |
| NG_009176.1:g.29232G>A | |
| NG_009176.2:g.29232G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230381.7:c.947G>A MANE Select | ENSP00000230381.5:p.Trp316Ter | |
| ENST00000230381.6:c.947G>A | ENSP00000230381.5:p.Trp316Ter | |
| NM_000322.4:c.947G>A | NP_000313.2:p.Trp316Ter | |
| XR_926295.3:n.1834G>A | ||
| NM_000322.5:c.947G>A MANE Select | NP_000313.2:p.Trp316Ter |