Linked Data
ClinVar Variation Id:
6014
ClinVar RCV Id:
RCV002354150
dbSNP Id:
rs104893856
PubMed:
PMID:16691592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746162C>T , CM000666.2:g.41746162C>T | GRCh38 |
| NC_000004.11:g.41748179C>T , CM000666.1:g.41748179C>T | GRCh37 |
| NC_000004.10:g.41442936C>T | NCBI36 |
| NG_008243.1:g.7809G>A , LRG_513:g.7809G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226382.4:c.590G>A MANE Select | ENSP00000226382.2:p.Gly197Asp | |
| ENST00000226382.3:c.590G>A | ENSP00000226382.2:p.Gly197Asp | |
| ENST00000510424.2:n.411G>A | ||
| NM_003924.3:c.590G>A , LRG_513t1:c.590G>A | NP_003915.2:p.Gly197Asp | |
| NM_003924.4:c.590G>A MANE Select | NP_003915.2:p.Gly197Asp |