Linked Data
dbSNP Id:
rs779521740
ExAC:
1:109806940 C / G
gnomAD v2:
1-109806940-C-G
gnomAD v3:
1-109264318-C-G
gnomAD v4:
1-109264318-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264318C>G , CM000663.2:g.109264318C>G | GRCh38 |
| NC_000001.10:g.109806940C>G , CM000663.1:g.109806940C>G | GRCh37 |
| NC_000001.9:g.109608463C>G | NCBI36 |
| NG_052669.1:g.19614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5242C>G MANE Select | ENSP00000271332.3:p.Pro1748Ala | |
| ENST00000271332.3:c.5242C>G | ENSP00000271332.3:p.Pro1748Ala | |
| NM_001408.2:c.5242C>G | NP_001399.1:p.Pro1748Ala | |
| XM_005270580.3:c.5242C>G | XP_005270637.1:p.Pro1748Ala | |
| NM_001408.3:c.5242C>G MANE Select | NP_001399.1:p.Pro1748Ala |