Linked Data
ClinVar Variation Id:
2744489
ClinVar RCV Id:
RCV003562858
dbSNP Id:
rs1319317043
gnomAD v2:
5-90119315-G-A
gnomAD v4:
5-90823498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823498G>A , CM000667.2:g.90823498G>A | GRCh38 |
| NC_000005.9:g.90119315G>A , CM000667.1:g.90119315G>A | GRCh37 |
| NC_000005.8:g.90155071G>A | NCBI36 |
| NG_007083.1:g.269699G>A | |
| NG_007083.2:g.299155G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16270G>A MANE Select | ENSP00000384582.2:p.Val5424Ile | |
| ENST00000425867.3:c.5224G>A | ENSP00000392618.3:p.Val1742Ile | |
| ENST00000638510.1:n.3537G>A | ||
| ENST00000639431.1:c.265+147289G>A | ENSP00000491057.1:n.265+147289G>A | |
| ENST00000640061.1:n.128+1316G>A | ||
| ENST00000640407.1:c.2680G>A | ENSP00000491425.1:p.Val894Ile | |
| ENST00000405460.6:c.16270G>A | ENSP00000384582.2:p.Val5424Ile | |
| ENST00000425867.2:c.3253G>A | ENSP00000392618.2:p.Val1085Ile | |
| NM_032119.3:c.16270G>A | NP_115495.3:p.Val5424Ile | |
| NR_003149.1:n.16283G>A | ||
| XM_011543675.1:c.16267G>A | XP_011541977.1:p.Val5423Ile | |
| XM_011543676.1:c.16189G>A | XP_011541978.1:p.Val5397Ile | |
| XM_011543677.1:c.13573G>A | XP_011541979.1:p.Val4525Ile | |
| NM_032119.4:c.16270G>A MANE Select | NP_115495.3:p.Val5424Ile | |
| XM_017009963.2:c.16291G>A | XP_016865452.1:p.Val5431Ile | |
| XM_017009964.2:c.16288G>A | XP_016865453.1:p.Val5430Ile | |
| XM_017009965.1:c.16288G>A | XP_016865454.1:p.Val5430Ile | |
| XM_017009966.2:c.16210G>A | XP_016865455.1:p.Val5404Ile | |
| XM_017009967.1:c.16195G>A | XP_016865456.1:p.Val5399Ile | |
| XM_017009968.2:c.16111G>A | XP_016865457.1:p.Val5371Ile | |
| XM_017009969.2:c.16291G>A | XP_016865458.1:p.Val5431Ile | |
| XM_017009972.1:c.9409G>A | XP_016865461.1:p.Val3137Ile | |
| XM_017009973.1:c.9388G>A | XP_016865462.1:p.Val3130Ile | |
| NR_003149.2:n.16286G>A |