Linked Data
dbSNP Id:
rs774080309
ExAC:
8:94935289 C / G
gnomAD v2:
8-94935289-C-G
gnomAD v3:
8-93923061-C-G
gnomAD v4:
8-93923061-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923061C>G , CM000670.2:g.93923061C>G | GRCh38 |
| NC_000008.10:g.94935289C>G , CM000670.1:g.94935289C>G | GRCh37 |
| NC_000008.9:g.95004465C>G | NCBI36 |
| NG_012233.1:g.11128C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1002C>G MANE Select | ENSP00000297598.4:p.Ala334= | |
| ENST00000297598.4:c.1002C>G | ENSP00000297598.4:p.Ala334= | |
| ENST00000396200.3:c.1077C>G | ENSP00000379503.3:p.Ala359= | |
| ENST00000517764.1:c.1002C>G | ENSP00000430380.1:p.Ala334= | |
| ENST00000520728.5:c.1002C>G | ENSP00000428317.1:p.Ala334= | |
| NM_001161779.1:c.1077C>G | NP_001155251.1:p.Ala359= | |
| NM_001161780.1:c.1077C>G | NP_001155252.1:p.Ala359= | |
| NM_001161781.1:c.1002C>G | NP_001155253.1:p.Ala334= | |
| NM_018444.3:c.1002C>G | NP_060914.2:p.Ala334= | |
| XM_011517135.1:c.1056C>G | XP_011515437.1:p.Ala352= | |
| XM_011517136.1:c.1002C>G | XP_011515438.1:p.Ala334= | |
| XM_011517137.1:c.1002C>G | XP_011515439.1:p.Ala334= | |
| XM_011517135.2:c.1056C>G | XP_011515437.1:p.Ala352= | |
| XM_011517136.2:c.1002C>G | XP_011515438.1:p.Ala334= | |
| XM_017013588.1:c.1164C>G | XP_016869077.1:p.Ala388= | |
| NM_018444.4:c.1002C>G MANE Select | NP_060914.2:p.Ala334= | |
| NM_001161780.2:c.1077C>G | NP_001155252.1:p.Ala359= | |
| NM_001161781.2:c.1002C>G | NP_001155253.1:p.Ala334= | |
| NM_001161779.2:c.1077C>G | NP_001155251.1:p.Ala359= |