Linked Data
dbSNP Id:
rs982371629
gnomAD v2:
2-128186182-A-G
gnomAD v3:
2-127428606-A-G
gnomAD v4:
2-127428606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428606A>G , CM000664.2:g.127428606A>G | GRCh38 |
| NC_000002.11:g.128186182A>G , CM000664.1:g.128186182A>G | GRCh37 |
| NC_000002.10:g.127902652A>G | NCBI36 |
| NG_016323.1:g.15187A>G , LRG_599:g.15187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1046A>G MANE Select | ENSP00000234071.4:p.Glu349Gly | |
| ENST00000234071.7:c.1046A>G | ENSP00000234071.3:p.Glu349Gly | |
| ENST00000402125.2:c.370A>G | ||
| ENST00000409048.1:c.1148A>G | ENSP00000386679.1:p.Glu383Gly | |
| NM_000312.3:c.1046A>G , LRG_599t1:c.1046A>G | NP_000303.1:p.Glu349Gly | |
| XM_005263715.3:c.1229A>G | XP_005263772.1:p.Glu410Gly | |
| XM_005263716.3:c.1211A>G | XP_005263773.1:p.Glu404Gly | |
| XM_005263717.3:c.1109A>G | XP_005263774.1:p.Glu370Gly | |
| XR_923313.1:n.1332-342T>C | ||
| XM_005263717.4:c.1109A>G | XP_005263774.1:p.Glu370Gly | |
| XM_017004505.1:c.1289A>G | XP_016859994.1:p.Glu430Gly | |
| XM_024453002.1:c.1391A>G | XP_024308770.1:p.Glu464Gly | |
| XM_024453003.1:c.1331A>G | XP_024308771.1:p.Glu444Gly | |
| XM_024453004.1:c.1229A>G | XP_024308772.1:p.Glu410Gly | |
| XM_024453005.1:c.1211A>G | XP_024308773.1:p.Glu404Gly | |
| XM_024453006.1:c.1148A>G | XP_024308774.1:p.Glu383Gly | |
| XR_001739705.1:n.3607-342T>C | ||
| XR_923313.2:n.4043-342T>C | ||
| NM_000312.4:c.1046A>G MANE Select | NP_000303.1:p.Glu349Gly | |
| NM_001375602.1:c.1229A>G | NP_001362531.1:p.Glu410Gly | |
| NM_001375603.1:c.1211A>G | NP_001362532.1:p.Glu404Gly | |
| NM_001375604.1:c.1109A>G | NP_001362533.1:p.Glu370Gly | |
| NM_001375605.1:c.1148A>G | NP_001362534.1:p.Glu383Gly | |
| NM_001375606.1:c.1214A>G | NP_001362535.1:p.Glu405Gly | |
| NM_001375607.1:c.1232A>G | NP_001362536.1:p.Glu411Gly | |
| NM_001375608.1:c.989A>G | NP_001362537.1:p.Glu330Gly | |
| NM_001375609.1:c.1022A>G | NP_001362538.1:p.Glu341Gly | |
| NM_001375610.1:c.1040A>G | NP_001362539.1:p.Glu347Gly | |
| NM_001375611.1:c.1046A>G | NP_001362540.1:p.Glu349Gly | |
| NM_001375613.1:c.1046A>G | NP_001362542.1:p.Glu349Gly |