Linked Data
dbSNP Id:
rs769193163
ExAC:
19:47207630 G / C
gnomAD v2:
19-47207630-G-C
gnomAD v4:
19-46704373-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46704373G>C , CM000681.2:g.46704373G>C | GRCh38 |
| NC_000019.9:g.47207630G>C , CM000681.1:g.47207630G>C | GRCh37 |
| NC_000019.8:g.51899470G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291281.9:c.685C>G MANE Select | ENSP00000291281.3:p.Leu229Val | |
| ENST00000291281.8:c.685C>G | ENSP00000291281.3:p.Leu229Val | |
| ENST00000433867.5:c.685C>G | ENSP00000393978.1:p.Leu229Val | |
| ENST00000595515.5:c.685C>G | ENSP00000470804.1:p.Leu229Val | |
| ENST00000597641.1:c.420C>G | ENSP00000469064.1:n.420C>G | |
| ENST00000600194.5:c.214C>G | ENSP00000472744.1:p.Leu72Val | |
| ENST00000601605.5:c.41-3261C>G | ENSP00000470442.1:n.41-3261C>G | |
| ENST00000601806.5:c.214C>G | ENSP00000469106.1:p.Leu72Val | |
| NM_001079880.1:c.685C>G | NP_001073349.1:p.Leu229Val | |
| NM_001079881.1:c.685C>G | NP_001073350.1:p.Leu229Val | |
| NM_001079882.1:c.214C>G | NP_001073351.1:p.Leu72Val | |
| NM_016457.4:c.685C>G | NP_057541.2:p.Leu229Val | |
| XM_005258716.2:c.214C>G | XP_005258773.2:p.Leu72Val | |
| NM_001079880.2:c.685C>G | NP_001073349.1:p.Leu229Val | |
| NM_001079881.2:c.685C>G | NP_001073350.1:p.Leu229Val | |
| NM_001079882.2:c.214C>G | NP_001073351.1:p.Leu72Val | |
| NM_016457.5:c.685C>G MANE Select | NP_057541.2:p.Leu229Val |