Linked Data
ClinVar Variation Id:
1017249
ClinVar RCV Id:
RCV001316375
dbSNP Id:
rs375876245
ExAC:
5:90119294 G / A
gnomAD v2:
5-90119294-G-A
gnomAD v3:
5-90823477-G-A
gnomAD v4:
5-90823477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823477G>A , CM000667.2:g.90823477G>A | GRCh38 |
| NC_000005.9:g.90119294G>A , CM000667.1:g.90119294G>A | GRCh37 |
| NC_000005.8:g.90155050G>A | NCBI36 |
| NG_007083.1:g.269678G>A | |
| NG_007083.2:g.299134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16249G>A MANE Select | ENSP00000384582.2:p.Val5417Ile | |
| ENST00000425867.3:c.5203G>A | ENSP00000392618.3:p.Val1735Ile | |
| ENST00000638510.1:n.3516G>A | ||
| ENST00000639431.1:c.265+147268G>A | ENSP00000491057.1:n.265+147268G>A | |
| ENST00000640061.1:n.128+1295G>A | ||
| ENST00000640407.1:c.2659G>A | ENSP00000491425.1:p.Val887Ile | |
| ENST00000405460.6:c.16249G>A | ENSP00000384582.2:p.Val5417Ile | |
| ENST00000425867.2:c.3232G>A | ENSP00000392618.2:p.Val1078Ile | |
| NM_032119.3:c.16249G>A | NP_115495.3:p.Val5417Ile | |
| NR_003149.1:n.16262G>A | ||
| XM_011543675.1:c.16246G>A | XP_011541977.1:p.Val5416Ile | |
| XM_011543676.1:c.16168G>A | XP_011541978.1:p.Val5390Ile | |
| XM_011543677.1:c.13552G>A | XP_011541979.1:p.Val4518Ile | |
| NM_032119.4:c.16249G>A MANE Select | NP_115495.3:p.Val5417Ile | |
| XM_017009963.2:c.16270G>A | XP_016865452.1:p.Val5424Ile | |
| XM_017009964.2:c.16267G>A | XP_016865453.1:p.Val5423Ile | |
| XM_017009965.1:c.16267G>A | XP_016865454.1:p.Val5423Ile | |
| XM_017009966.2:c.16189G>A | XP_016865455.1:p.Val5397Ile | |
| XM_017009967.1:c.16174G>A | XP_016865456.1:p.Val5392Ile | |
| XM_017009968.2:c.16090G>A | XP_016865457.1:p.Val5364Ile | |
| XM_017009969.2:c.16270G>A | XP_016865458.1:p.Val5424Ile | |
| XM_017009972.1:c.9388G>A | XP_016865461.1:p.Val3130Ile | |
| XM_017009973.1:c.9367G>A | XP_016865462.1:p.Val3123Ile | |
| NR_003149.2:n.16265G>A |