Linked Data
ClinVar Variation Id:
127190
ClinVar RCV Id:
RCV000115019
dbSNP Id:
rs587777356
PubMed:
PMID:23246003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30724119G>A , CM000668.2:g.30724119G>A | GRCh38 |
| NC_000006.11:g.30691896G>A , CM000668.1:g.30691896G>A | GRCh37 |
| NC_000006.10:g.30799875G>A | NCBI36 |
| NG_034142.1:g.8919G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327892.13:c.1057G>A MANE Select | ENSP00000339001.7:p.Val353Ile | |
| ENST00000680530.1:n.1919G>A | ||
| ENST00000681421.1:n.2123G>A | ||
| ENST00000681435.1:c.841G>A | ENSP00000506665.1:p.Val281Ile | |
| ENST00000327892.12:c.1057G>A | ENSP00000339001.7:p.Val353Ile | |
| ENST00000330914.7:c.841G>A | ENSP00000365578.2:p.Val281Ile | |
| ENST00000396384.1:c.841G>A | ENSP00000379668.1:p.Val281Ile | |
| ENST00000396389.5:c.1003G>A | ENSP00000379672.1:p.Val335Ile | |
| NM_001293212.1:c.1117G>A | NP_001280141.1:p.Val373Ile | |
| NM_001293213.1:c.451G>A | NP_001280142.1:p.Val151Ile | |
| NM_001293214.1:c.925G>A | NP_001280143.1:p.Val309Ile | |
| NM_001293215.1:c.841G>A | NP_001280144.1:p.Val281Ile | |
| NM_001293216.1:c.841G>A | NP_001280145.1:p.Val281Ile | |
| NM_178014.3:c.1057G>A | NP_821133.1:p.Val353Ile | |
| NR_120608.1:n.764G>A | ||
| NM_178014.4:c.1057G>A MANE Select | NP_821133.1:p.Val353Ile | |
| NM_001293212.2:c.1117G>A | NP_001280141.1:p.Val373Ile | |
| NM_001293213.2:c.451G>A | NP_001280142.1:p.Val151Ile | |
| NM_001293214.2:c.925G>A | NP_001280143.1:p.Val309Ile | |
| NM_001293215.2:c.841G>A | NP_001280144.1:p.Val281Ile | |
| NM_001293216.2:c.841G>A | NP_001280145.1:p.Val281Ile | |
| NR_120608.2:n.613G>A |