Linked Data
dbSNP Id:
rs780648965
ExAC:
1:231401085 T / G
gnomAD v2:
1-231401085-T-G
gnomAD v4:
1-231265339-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265339T>G , CM000663.2:g.231265339T>G | GRCh38 |
| NC_000001.10:g.231401085T>G , CM000663.1:g.231401085T>G | GRCh37 |
| NC_000001.9:g.229467708T>G | NCBI36 |
| NG_008240.1:g.29167T>G | |
| NG_008240.2:g.29167T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.615T>G MANE Select | ENSP00000355607.4:p.Gly205= | |
| ENST00000644483.1:c.*301T>G | ENSP00000496537.1:n.*301T>G | |
| ENST00000366647.8:c.615T>G | ENSP00000355607.4:p.Gly205= | |
| ENST00000416000.1:c.585T>G | ENSP00000411640.1:p.Gly195= | |
| ENST00000436239.5:c.432T>G | ENSP00000402811.1:p.Gly144= | |
| NM_001316350.1:c.432T>G | NP_001303279.1:p.Gly144= | |
| NM_014236.3:c.615T>G | NP_055051.1:p.Gly205= | |
| XM_005273313.3:c.612T>G | XP_005273370.1:p.Gly204= | |
| XM_011544303.1:c.288T>G | XP_011542605.1:p.Gly96= | |
| XM_011544304.1:c.288T>G | XP_011542606.1:p.Gly96= | |
| XM_005273313.4:c.612T>G | XP_005273370.1:p.Gly204= | |
| XM_011544303.3:c.288T>G | XP_011542605.1:p.Gly96= | |
| XM_011544304.2:c.288T>G | XP_011542606.1:p.Gly96= | |
| NM_014236.4:c.615T>G MANE Select | NP_055051.1:p.Gly205= | |
| NM_001316350.2:c.432T>G | NP_001303279.1:p.Gly144= |