Linked Data
ClinVar Variation Id:
2393939
ClinVar RCV Id:
RCV004230447
dbSNP Id:
rs371909957
ExAC:
19:4504895 G / A
gnomAD v2:
19-4504895-G-A
gnomAD v3:
19-4504883-G-A
gnomAD v4:
19-4504883-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4504883G>A , CM000681.2:g.4504883G>A | GRCh38 |
| NC_000019.9:g.4504895G>A , CM000681.1:g.4504895G>A | GRCh37 |
| NC_000019.8:g.4455895G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301286.5:c.3767C>T MANE Select | ENSP00000301286.4:p.Ala1256Val | |
| ENST00000301286.4:c.3725C>T | ENSP00000301286.3:p.Ala1242Val | |
| ENST00000633942.1:c.3770C>T | ENSP00000488481.1:p.Ala1257Val | |
| NM_001080400.1:c.3725C>T | NP_001073869.1:p.Ala1242Val | |
| XM_006722866.1:c.3770C>T | XP_006722929.1:p.Ala1257Val | |
| XM_006722868.2:c.3767C>T | XP_006722931.1:p.Ala1256Val | |
| XM_011528233.1:c.3950C>T | XP_011526535.1:p.Ala1317Val | |
| XM_011528234.1:c.3950C>T | XP_011526536.1:p.Ala1317Val | |
| XM_011528235.1:c.3950C>T | XP_011526537.1:p.Ala1317Val | |
| XM_011528236.1:c.3653C>T | XP_011526538.1:p.Ala1218Val | |
| XM_011528237.1:c.3554C>T | XP_011526539.1:p.Ala1185Val | |
| XM_006722866.2:c.3770C>T | XP_006722929.1:p.Ala1257Val | |
| XM_006722868.4:c.3767C>T | XP_006722931.1:p.Ala1256Val | |
| XM_011528233.2:c.3950C>T | XP_011526535.1:p.Ala1317Val | |
| XM_017027192.1:c.3953C>T | XP_016882681.1:p.Ala1318Val | |
| XM_017027193.1:c.3953C>T | XP_016882682.1:p.Ala1318Val | |
| XM_017027194.1:c.3953C>T | XP_016882683.1:p.Ala1318Val | |
| NM_001367868.1:c.3767C>T | NP_001354797.1:p.Ala1256Val | |
| NM_001367868.2:c.3767C>T MANE Select | NP_001354797.1:p.Ala1256Val | |
| NM_001393888.1:c.3770C>T | NP_001380817.1:p.Ala1257Val | |
| NM_001393889.1:c.3770C>T | NP_001380818.1:p.Ala1257Val | |
| NM_001393890.1:c.3767C>T | NP_001380819.1:p.Ala1256Val | |
| NM_001393891.1:c.3767C>T | NP_001380820.1:p.Ala1256Val |