Linked Data
ClinVar Variation Id:
97356
ClinVar RCV Id:
RCV000083604
dbSNP Id:
rs67468335
PubMed:
PMID:9452049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411901T>C , CM000685.2:g.38411901T>C | GRCh38 |
| NC_000023.10:g.38271154T>C , CM000685.1:g.38271154T>C | GRCh37 |
| NC_000023.9:g.38156098T>C | NCBI36 |
| NG_008471.1:g.64419T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.907T>C MANE Select | ENSP00000039007.4:p.Cys303Arg | |
| ENST00000643344.1:c.*657T>C | ENSP00000496606.1:n.*657T>C | |
| ENST00000039007.4:c.907T>C | ENSP00000039007.4:p.Cys303Arg | |
| ENST00000465127.1:c.172-254220T>C | ENSP00000417050.1:n.172-254220T>C | |
| NM_000531.5:c.907T>C | NP_000522.3:p.Cys303Arg | |
| NM_000531.6:c.907T>C MANE Select | NP_000522.3:p.Cys303Arg |