Linked Data
ClinVar Variation Id:
861120
ClinVar RCV Id:
RCV001067565
dbSNP Id:
rs749868209
ExAC:
5:89923070 G / A
gnomAD v2:
5-89923070-G-A
gnomAD v3:
5-90627253-G-A
gnomAD v4:
5-90627253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627253G>A , CM000667.2:g.90627253G>A | GRCh38 |
| NC_000005.9:g.89923070G>A , CM000667.1:g.89923070G>A | GRCh37 |
| NC_000005.8:g.89958826G>A | NCBI36 |
| NG_007083.1:g.73454G>A | |
| NG_007083.2:g.102910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.715G>A MANE Select | ENSP00000384582.2:p.Val239Ile | |
| ENST00000640083.1:n.420G>A | ||
| ENST00000640109.1:n.811G>A | ||
| ENST00000640281.1:n.774G>A | ||
| ENST00000405460.6:c.715G>A | ENSP00000384582.2:p.Val239Ile | |
| NM_032119.3:c.715G>A | NP_115495.3:p.Val239Ile | |
| NR_003149.1:n.811G>A | ||
| XM_011543675.1:c.715G>A | XP_011541977.1:p.Val239Ile | |
| XM_011543676.1:c.715G>A | XP_011541978.1:p.Val239Ile | |
| XM_011543678.1:c.715G>A | XP_011541980.1:p.Val239Ile | |
| XM_011543679.1:c.715G>A | XP_011541981.1:p.Val239Ile | |
| NM_032119.4:c.715G>A MANE Select | NP_115495.3:p.Val239Ile | |
| XM_017009963.2:c.715G>A | XP_016865452.1:p.Val239Ile | |
| XM_017009964.2:c.715G>A | XP_016865453.1:p.Val239Ile | |
| XM_017009965.1:c.712G>A | XP_016865454.1:p.Val238Ile | |
| XM_017009966.2:c.715G>A | XP_016865455.1:p.Val239Ile | |
| XM_017009967.1:c.619G>A | XP_016865456.1:p.Val207Ile | |
| XM_017009968.2:c.715G>A | XP_016865457.1:p.Val239Ile | |
| XM_017009969.2:c.715G>A | XP_016865458.1:p.Val239Ile | |
| XM_017009970.2:c.715G>A | XP_016865459.1:p.Val239Ile | |
| XM_017009971.2:c.715G>A | XP_016865460.1:p.Val239Ile | |
| XM_017009974.2:c.715G>A | XP_016865463.1:p.Val239Ile | |
| NR_003149.2:n.814G>A |