Linked Data
ClinVar Variation Id:
1976625
ClinVar RCV Id:
RCV002760967
gnomAD v4:
8-144095216-A-G
MyVariant Identifiers:
chr8:g.145150119A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144095216A>G , CM000670.2:g.144095216A>G | GRCh38 |
| NC_000008.10:g.145150119A>G , CM000670.1:g.145150119A>G | GRCh37 |
| NC_000008.9:g.145222107A>G | NCBI36 |
| NG_033872.1:g.5182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.117A>G MANE Select | ENSP00000317159.4:p.Leu39= | |
| ENST00000318911.4:c.117A>G | ENSP00000317159.4:p.Leu39= | |
| ENST00000533444.1:n.178A>G | ||
| NM_001916.4:c.117A>G | NP_001907.2:p.Leu39= | |
| XM_017013102.1:c.-665A>G | XP_016868591.1:n.-665A>G | |
| NM_001916.5:c.117A>G MANE Select | NP_001907.3:p.Leu39= |