Linked Data
ClinVar Variation Id:
50873
dbSNP Id:
rs142439525
ExAC:
5:141693833 C / T
gnomAD v2:
5-141693833-C-T
gnomAD v3:
5-142314268-C-T
gnomAD v4:
5-142314268-C-T
PubMed:
PMID:23643382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142314268C>T , CM000667.2:g.142314268C>T | GRCh38 |
| NC_000005.9:g.141693833C>T , CM000667.1:g.141693833C>T | GRCh37 |
| NC_000005.8:g.141674017C>T | NCBI36 |
| NG_034148.1:g.15788G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434127.3:c.841G>A MANE Select | ENSP00000399468.2:p.Val281Ile | |
| ENST00000643792.1:n.1523G>A | ||
| ENST00000344120.4:c.910G>A | ENSP00000344967.4:p.Val304Ile | |
| ENST00000434127.2:c.841G>A | ENSP00000399468.2:p.Val281Ile | |
| NM_001127496.1:c.841G>A | NP_001120968.1:p.Val281Ile | |
| NM_001293289.1:c.841G>A | NP_001280218.1:p.Val281Ile | |
| NM_001293290.1:c.841G>A | NP_001280219.1:p.Val281Ile | |
| NM_030964.3:c.910G>A | NP_112226.2:p.Val304Ile | |
| XM_011537685.1:c.910G>A | XP_011535987.1:p.Val304Ile | |
| XM_011537685.3:c.910G>A | XP_011535987.1:p.Val304Ile | |
| XM_017009910.2:c.841G>A | XP_016865399.1:p.Val281Ile | |
| NM_001127496.2:c.841G>A | NP_001120968.1:p.Val281Ile | |
| NM_001293289.2:c.841G>A | NP_001280218.1:p.Val281Ile | |
| NM_001293290.2:c.841G>A | NP_001280219.1:p.Val281Ile | |
| NM_030964.4:c.910G>A | NP_112226.2:p.Val304Ile | |
| NM_001127496.3:c.841G>A MANE Select | NP_001120968.1:p.Val281Ile | |
| NM_001293289.3:c.841G>A | NP_001280218.1:p.Val281Ile | |
| NM_001293290.3:c.841G>A | NP_001280219.1:p.Val281Ile | |
| NM_030964.5:c.910G>A | NP_112226.2:p.Val304Ile |