Linked Data
dbSNP Id:
rs757474936
gnomAD v4:
1-231265321-G-A
MyVariant Identifiers:
chr1:g.231401067G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265321G>A , CM000663.2:g.231265321G>A | GRCh38 |
| NC_000001.10:g.231401067G>A , CM000663.1:g.231401067G>A | GRCh37 |
| NC_000001.9:g.229467690G>A | NCBI36 |
| NG_008240.1:g.29149G>A | |
| NG_008240.2:g.29149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.597G>A MANE Select | ENSP00000355607.4:p.Glu199= | |
| ENST00000644483.1:c.*283G>A | ENSP00000496537.1:n.*283G>A | |
| ENST00000366647.8:c.597G>A | ENSP00000355607.4:p.Glu199= | |
| ENST00000416000.1:c.567G>A | ENSP00000411640.1:p.Glu189= | |
| ENST00000436239.5:c.414G>A | ENSP00000402811.1:p.Glu138= | |
| NM_001316350.1:c.414G>A | NP_001303279.1:p.Glu138= | |
| NM_014236.3:c.597G>A | NP_055051.1:p.Glu199= | |
| XM_005273313.3:c.594G>A | XP_005273370.1:p.Glu198= | |
| XM_011544303.1:c.270G>A | XP_011542605.1:p.Glu90= | |
| XM_011544304.1:c.270G>A | XP_011542606.1:p.Glu90= | |
| XM_005273313.4:c.594G>A | XP_005273370.1:p.Glu198= | |
| XM_011544303.3:c.270G>A | XP_011542605.1:p.Glu90= | |
| XM_011544304.2:c.270G>A | XP_011542606.1:p.Glu90= | |
| NM_014236.4:c.597G>A MANE Select | NP_055051.1:p.Glu199= | |
| NM_001316350.2:c.414G>A | NP_001303279.1:p.Glu138= |