Linked Data
ClinVar Variation Id:
161809
ClinVar RCV Id:
RCV000149345
dbSNP Id:
rs193921037
ExAC:
4:52943177 G / A
gnomAD v2:
4-52943177-G-A
gnomAD v4:
4-52077011-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52077011G>A , CM000666.2:g.52077011G>A | GRCh38 |
| NC_000004.11:g.52943177G>A , CM000666.1:g.52943177G>A | GRCh37 |
| NC_000004.10:g.52637934G>A | NCBI36 |
| NG_051630.1:g.30681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295213.9:c.991G>A MANE Select | ENSP00000295213.4:p.Val331Ile | |
| ENST00000295213.8:c.991G>A | ENSP00000295213.4:p.Val331Ile | |
| ENST00000419395.6:c.895G>A | ENSP00000415309.2:p.Val299Ile | |
| ENST00000505320.5:c.991G>A | ENSP00000421204.1:p.Val331Ile | |
| ENST00000511028.1:n.1277G>A | ||
| NM_001297608.1:c.895G>A | NP_001284537.1:p.Val299Ile | |
| NM_145263.3:c.991G>A | NP_660306.1:p.Val331Ile | |
| NR_123728.1:n.1365G>A | ||
| XM_005265716.1:c.580G>A | XP_005265773.1:p.Val194Ile | |
| XM_005265717.2:c.991G>A | XP_005265774.1:p.Val331Ile | |
| XM_005265718.1:c.316G>A | XP_005265775.1:p.Val106Ile | |
| XM_011534369.1:c.676G>A | XP_011532671.1:p.Val226Ile | |
| XM_011534370.1:c.601G>A | XP_011532672.1:p.Val201Ile | |
| XM_011534371.1:c.583G>A | XP_011532673.1:p.Val195Ile | |
| XM_011534372.1:c.316G>A | XP_011532674.1:p.Val106Ile | |
| XR_941044.1:n.1280G>A | ||
| NM_001346102.1:c.580G>A | NP_001333031.1:p.Val194Ile | |
| NM_001346103.1:c.316G>A | NP_001333032.1:p.Val106Ile | |
| NR_144359.1:n.934G>A | ||
| XM_017007731.2:c.631G>A | XP_016863220.1:p.Val211Ile | |
| XM_024453891.1:c.340G>A | XP_024309659.1:p.Val114Ile | |
| XR_002959709.1:n.1071G>A | ||
| NM_145263.4:c.991G>A MANE Select | NP_660306.1:p.Val331Ile | |
| NM_001297608.2:c.895G>A | NP_001284537.1:p.Val299Ile | |
| NM_001346102.2:c.580G>A | NP_001333031.1:p.Val194Ile | |
| NM_001346103.2:c.316G>A | NP_001333032.1:p.Val106Ile | |
| NR_123728.2:n.1392G>A | ||
| NR_144359.2:n.961G>A |