Linked Data
dbSNP Id:
rs774453569
ExAC:
17:649070 T / C
gnomAD v2:
17-649070-T-C
gnomAD v4:
17-745830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.745830T>C , CM000679.2:g.745830T>C | GRCh38 |
| NC_000017.10:g.649070T>C , CM000679.1:g.649070T>C | GRCh37 |
| NC_000017.9:g.595820T>C | NCBI36 |
| NG_046938.1:g.12043A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.2213A>G MANE Select | ENSP00000321706.5:p.Glu738Gly | |
| ENST00000319004.5:c.2213A>G | ENSP00000321706.5:p.Glu738Gly | |
| ENST00000576778.1:c.2180A>G | ENSP00000459565.1:p.Glu727Gly | |
| NM_015721.2:c.2213A>G | NP_056536.2:p.Glu738Gly | |
| XM_005256667.3:c.2225A>G | XP_005256724.1:p.Glu742Gly | |
| XM_005256668.3:c.2225A>G | XP_005256725.1:p.Glu742Gly | |
| XM_005256670.3:c.2180A>G | XP_005256727.1:p.Glu727Gly | |
| XM_011523910.1:c.2225A>G | XP_011522212.1:p.Glu742Gly | |
| XM_011523911.1:c.2225A>G | XP_011522213.1:p.Glu742Gly | |
| XM_011523912.1:c.2180A>G | XP_011522214.1:p.Glu727Gly | |
| XM_011523913.1:c.2180A>G | XP_011522215.1:p.Glu727Gly | |
| XM_005256667.4:c.2225A>G | XP_005256724.1:p.Glu742Gly | |
| XM_005256670.5:c.2180A>G | XP_005256727.1:p.Glu727Gly | |
| XM_011523910.2:c.2225A>G | XP_011522212.1:p.Glu742Gly | |
| XM_011523911.2:c.2225A>G | XP_011522213.1:p.Glu742Gly | |
| XM_011523912.2:c.2180A>G | XP_011522214.1:p.Glu727Gly | |
| XM_011523913.2:c.2180A>G | XP_011522215.1:p.Glu727Gly | |
| XM_017024709.1:c.2225A>G | XP_016880198.1:p.Glu742Gly | |
| NM_015721.3:c.2213A>G MANE Select | NP_056536.2:p.Glu738Gly |