Linked Data
ClinVar Variation Id:
1444977
ClinVar RCV Id:
RCV001992488
dbSNP Id:
rs759088006
ExAC:
10:13325787 G / C
gnomAD v2:
10-13325787-G-C
gnomAD v3:
10-13283787-G-C
gnomAD v4:
10-13283787-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283787G>C , CM000672.2:g.13283787G>C | GRCh38 |
| NC_000010.10:g.13325787G>C , CM000672.1:g.13325787G>C | GRCh37 |
| NC_000010.9:g.13365793G>C | NCBI36 |
| NG_012862.1:g.21344C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.731C>G MANE Select | ENSP00000263038.4:p.Ala244Gly | |
| ENST00000263038.8:c.731C>G | ENSP00000263038.4:p.Ala244Gly | |
| ENST00000396913.6:c.431C>G | ENSP00000380121.2:p.Ala144Gly | |
| ENST00000396920.7:c.680C>G | ENSP00000380126.3:p.Ala227Gly | |
| ENST00000453759.6:c.431C>G | ENSP00000412525.2:p.Ala144Gly | |
| NM_001037537.1:c.431C>G | NP_001032626.1:p.Ala144Gly | |
| NM_006214.3:c.731C>G | NP_006205.1:p.Ala244Gly | |
| XM_005252469.2:c.512C>G | XP_005252526.1:p.Ala171Gly | |
| NM_001323080.1:c.431C>G | NP_001310009.1:p.Ala144Gly | |
| NM_001323082.1:c.737C>G | NP_001310011.1:p.Ala246Gly | |
| NM_001323083.1:c.467C>G | NP_001310012.1:p.Ala156Gly | |
| NM_001323084.1:c.437C>G | NP_001310013.1:p.Ala146Gly | |
| NM_006214.4:c.731C>G MANE Select | NP_006205.1:p.Ala244Gly | |
| NM_001037537.2:c.431C>G | NP_001032626.1:p.Ala144Gly | |
| NM_001323080.2:c.431C>G | NP_001310009.1:p.Ala144Gly | |
| NM_001323082.2:c.737C>G | NP_001310011.1:p.Ala246Gly | |
| NM_001323083.2:c.467C>G | NP_001310012.1:p.Ala156Gly | |
| NM_001323084.2:c.437C>G | NP_001310013.1:p.Ala146Gly |