Linked Data
dbSNP Id:
rs17291650
ExAC:
12:51213433 A / G
gnomAD v2:
12-51213433-A-G
gnomAD v3:
12-50819650-A-G
gnomAD v4:
12-50819650-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50819650A>G , CM000674.2:g.50819650A>G | GRCh38 |
| NC_000012.11:g.51213433A>G , CM000674.1:g.51213433A>G | GRCh37 |
| NC_000012.10:g.49499700A>G | NCBI36 |
| NG_027673.1:g.60645A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262053.8:c.687A>G MANE Select | ENSP00000262053.3:p.Glu229= | |
| ENST00000262053.7:c.687A>G | ENSP00000262053.3:p.Glu229= | |
| ENST00000551831.5:c.*284A>G | ENSP00000448987.1:n.*284A>G | |
| NM_005171.4:c.687A>G | NP_005162.1:p.Glu229= | |
| XM_011538386.1:c.687A>G | XP_011536688.1:p.Glu229= | |
| XM_011538387.1:c.687A>G | XP_011536689.1:p.Glu229= | |
| XM_011538388.1:c.405A>G | XP_011536690.1:p.Glu135= | |
| XM_011538386.2:c.687A>G | XP_011536688.1:p.Glu229= | |
| XM_011538387.2:c.687A>G | XP_011536689.1:p.Glu229= | |
| XM_011538388.2:c.405A>G | XP_011536690.1:p.Glu135= | |
| XM_017019331.1:c.711A>G | XP_016874820.1:p.Glu237= | |
| XM_017019332.1:c.687A>G | XP_016874821.1:p.Glu229= | |
| XM_017019333.1:c.687A>G | XP_016874822.1:p.Glu229= | |
| XM_017019334.1:c.687A>G | XP_016874823.1:p.Glu229= | |
| XM_017019335.1:c.405A>G | XP_016874824.1:p.Glu135= | |
| XM_017019336.1:c.405A>G | XP_016874825.1:p.Glu135= | |
| NM_005171.5:c.687A>G MANE Select | NP_005162.1:p.Glu229= |