Linked Data
ClinVar Variation Id:
386668
ClinVar RCV Id:
RCV000420638
dbSNP Id:
rs779432389
gnomAD v4:
1-35888474-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35888474C>G , CM000663.2:g.35888474C>G | GRCh38 |
| NC_000001.10:g.36354075C>G , CM000663.1:g.36354075C>G | GRCh37 |
| NC_000001.9:g.36126662C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699841.1:c.73C>G | ENSP00000514639.1:p.Arg25Gly | |
| ENST00000699842.1:c.73C>G | ENSP00000514640.1:p.Arg25Gly | |
| ENST00000699843.1:c.73C>G | ENSP00000514641.1:p.Arg25Gly | |
| ENST00000373204.6:c.73C>G MANE Select | ENSP00000362300.4:p.Arg25Gly | |
| ENST00000674304.1:c.73C>G | ENSP00000501450.1:p.Arg25Gly | |
| ENST00000674426.1:c.73C>G | ENSP00000501372.1:p.Arg25Gly | |
| ENST00000373204.5:c.73C>G | ENSP00000362300.4:p.Arg25Gly | |
| ENST00000373206.5:c.-153C>G | ENSP00000362302.1:n.-153C>G | |
| NM_012199.2:c.73C>G | NP_036331.1:p.Arg25Gly | |
| XM_011541236.1:c.73C>G | XP_011539538.1:p.Arg25Gly | |
| XM_011541237.1:c.-153C>G | XP_011539539.1:n.-153C>G | |
| NM_001317122.1:c.73C>G | NP_001304051.1:p.Arg25Gly | |
| NM_001317123.1:c.-153C>G | NP_001304052.1:n.-153C>G | |
| NM_012199.4:c.73C>G | NP_036331.1:p.Arg25Gly | |
| XM_011541236.2:c.73C>G | XP_011539538.1:p.Arg25Gly | |
| XM_017001016.1:c.73C>G | XP_016856505.1:p.Arg25Gly | |
| XM_017001017.1:c.73C>G | XP_016856506.1:p.Arg25Gly | |
| XM_017001019.1:c.-463C>G | XP_016856508.1:n.-463C>G | |
| NM_012199.5:c.73C>G MANE Select | NP_036331.1:p.Arg25Gly | |
| NM_001317122.2:c.73C>G | NP_001304051.1:p.Arg25Gly | |
| NM_001317123.2:c.-153C>G | NP_001304052.1:n.-153C>G |