Linked Data
ClinVar Variation Id:
2207719
ClinVar RCV Id:
RCV004074350
dbSNP Id:
rs766941356
ExAC:
19:4504652 A / T
gnomAD v2:
19-4504652-A-T
gnomAD v3:
19-4504640-A-T
gnomAD v4:
19-4504640-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4504640A>T , CM000681.2:g.4504640A>T | GRCh38 |
| NC_000019.9:g.4504652A>T , CM000681.1:g.4504652A>T | GRCh37 |
| NC_000019.8:g.4455652A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301286.5:c.3935T>A MANE Select | ENSP00000301286.4:p.Leu1312His | |
| ENST00000301286.4:c.3893T>A | ENSP00000301286.3:p.Leu1298His | |
| ENST00000633942.1:c.3938T>A | ENSP00000488481.1:p.Leu1313His | |
| NM_001080400.1:c.3893T>A | NP_001073869.1:p.Leu1298His | |
| XM_006722866.1:c.3938T>A | XP_006722929.1:p.Leu1313His | |
| XM_006722868.2:c.3935T>A | XP_006722931.1:p.Leu1312His | |
| XM_011528233.1:c.4118T>A | XP_011526535.1:p.Leu1373His | |
| XM_011528234.1:c.4118T>A | XP_011526536.1:p.Leu1373His | |
| XM_011528235.1:c.4118T>A | XP_011526537.1:p.Leu1373His | |
| XM_011528236.1:c.3821T>A | XP_011526538.1:p.Leu1274His | |
| XM_011528237.1:c.3722T>A | XP_011526539.1:p.Leu1241His | |
| XM_006722866.2:c.3938T>A | XP_006722929.1:p.Leu1313His | |
| XM_006722868.4:c.3935T>A | XP_006722931.1:p.Leu1312His | |
| XM_011528233.2:c.4118T>A | XP_011526535.1:p.Leu1373His | |
| XM_017027192.1:c.4121T>A | XP_016882681.1:p.Leu1374His | |
| XM_017027193.1:c.4121T>A | XP_016882682.1:p.Leu1374His | |
| XM_017027194.1:c.4121T>A | XP_016882683.1:p.Leu1374His | |
| NM_001367868.1:c.3935T>A | NP_001354797.1:p.Leu1312His | |
| NM_001367868.2:c.3935T>A MANE Select | NP_001354797.1:p.Leu1312His | |
| NM_001393888.1:c.3938T>A | NP_001380817.1:p.Leu1313His | |
| NM_001393889.1:c.3938T>A | NP_001380818.1:p.Leu1313His | |
| NM_001393890.1:c.3935T>A | NP_001380819.1:p.Leu1312His | |
| NM_001393891.1:c.3935T>A | NP_001380820.1:p.Leu1312His |