Linked Data
dbSNP Id:
rs114055242
ExAC:
20:1610930 C / T
gnomAD v2:
20-1610930-C-T
gnomAD v3:
20-1630284-C-T
gnomAD v4:
20-1630284-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1630284C>T , CM000682.2:g.1630284C>T | GRCh38 |
| NC_000020.10:g.1610930C>T , CM000682.1:g.1610930C>T | GRCh37 |
| NC_000020.9:g.1558930C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216927.4:c.771G>A | ENSP00000216927.4:p.Ala257= | |
| ENST00000303415.7:c.1104G>A MANE Select | ENSP00000305529.3:p.Ala368= | |
| ENST00000344103.8:c.453G>A | ENSP00000342759.4:p.Ala151= | |
| ENST00000381580.5:c.1005G>A | ENSP00000370992.1:p.Ala335= | |
| ENST00000381583.6:c.771G>A | ENSP00000370995.2:p.Ala257= | |
| ENST00000478145.6:n.165G>A | ||
| ENST00000497407.2:n.253G>A | ||
| NM_001039508.1:c.771G>A | NP_001034597.1:p.Ala257= | |
| NM_018556.3:c.1104G>A | NP_061026.2:p.Ala368= | |
| NM_080816.2:c.453G>A | NP_543006.2:p.Ala151= | |
| XM_005260749.2:c.786G>A | XP_005260806.1:p.Ala262= | |
| XM_011529286.1:c.1005G>A | XP_011527588.1:p.Ala335= | |
| XM_005260749.4:c.786G>A | XP_005260806.1:p.Ala262= | |
| XM_011529286.2:c.1005G>A | XP_011527588.1:p.Ala335= | |
| NM_018556.4:c.1104G>A MANE Select | NP_061026.2:p.Ala368= | |
| NM_080816.3:c.453G>A | NP_543006.2:p.Ala151= | |
| NM_001039508.2:c.771G>A | NP_001034597.1:p.Ala257= |