Linked Data
dbSNP Id:
rs1181572051
gnomAD v2:
X-119064112-A-G
gnomAD v3:
X-119930149-A-G
gnomAD v4:
X-119930149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930149A>G , CM000685.2:g.119930149A>G | GRCh38 |
| NC_000023.10:g.119064112A>G , CM000685.1:g.119064112A>G | GRCh37 |
| NC_000023.9:g.118948140A>G | NCBI36 |
| NG_021260.1:g.18624T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.940T>C MANE Select | ENSP00000360464.3:p.Leu314= | |
| ENST00000652253.1:c.936T>C | ||
| ENST00000371410.4:c.940T>C | ENSP00000360464.3:p.Leu314= | |
| ENST00000477789.5:n.1868T>C | ||
| ENST00000482407.1:n.739T>C | ||
| NM_024528.3:c.940T>C | NP_078804.2:p.Leu314= | |
| XM_017029842.1:c.643T>C | XP_016885331.1:p.Leu215= | |
| NM_024528.4:c.940T>C MANE Select | NP_078804.2:p.Leu314= |