Linked Data
ClinVar Variation Id:
6496
ClinVar RCV Id:
RCV000006869
dbSNP Id:
rs121908850
gnomAD v4:
12-34026832-G-A
PubMed:
PMID:15280551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.34026832G>A , CM000674.2:g.34026832G>A | GRCh38 |
| NC_000012.11:g.34179767G>A , CM000674.1:g.34179767G>A | GRCh37 |
| NC_000012.10:g.34071034G>A | NCBI36 |
| NG_016389.1:g.9552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266483.7:c.1339G>A MANE Select | ENSP00000266483.2:p.Val447Ile | |
| ENST00000266483.6:c.1339G>A | ENSP00000266483.2:p.Val447Ile | |
| ENST00000538927.1:c.369+2673G>A | ENSP00000444084.1:n.369+2673G>A | |
| ENST00000541875.1:c.*1079G>A | ENSP00000443142.1:n.*1079G>A | |
| NM_032834.3:c.1339G>A | NP_116223.3:p.Val447Ile | |
| XM_024449230.1:c.1159G>A | XP_024304998.1:p.Val387Ile | |
| XM_024449231.1:c.1159G>A | XP_024304999.1:p.Val387Ile | |
| NM_032834.4:c.1339G>A MANE Select | NP_116223.3:p.Val447Ile |