Linked Data
ClinVar Variation Id:
403626
ClinVar RCV Id:
RCV000455670
dbSNP Id:
rs77238711
ExAC:
19:31039669 C / T
gnomAD v2:
19-31039669-C-T
gnomAD v3:
19-30548762-C-T
gnomAD v4:
19-30548762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.30548762C>T , CM000681.2:g.30548762C>T | GRCh38 |
| NC_000019.9:g.31039669C>T , CM000681.1:g.31039669C>T | GRCh37 |
| NC_000019.8:g.35731509C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592773.3:c.3143C>T | ENSP00000467909.3:p.Ala1048Val | |
| ENST00000706142.1:c.3143C>T | ENSP00000516226.1:p.Ala1048Val | |
| ENST00000706143.1:c.896C>T | ENSP00000516227.1:p.Ala299Val | |
| ENST00000706144.1:c.3143C>T | ENSP00000516228.1:p.Ala1048Val | |
| ENST00000706146.1:c.3143C>T | ENSP00000516229.1:p.Ala1048Val | |
| ENST00000706147.1:c.2323+13763C>T | ENSP00000516230.1:n.2323+13763C>T | |
| ENST00000706148.1:c.3143C>T | ENSP00000516231.1:p.Ala1048Val | |
| ENST00000706149.1:c.896C>T | ENSP00000516232.1:p.Ala299Val | |
| ENST00000706150.1:c.3143C>T | ENSP00000516233.1:p.Ala1048Val | |
| ENST00000355537.4:c.3143C>T MANE Select | ENSP00000347730.1:p.Ala1048Val | |
| ENST00000355537.3:c.3143C>T | ENSP00000347730.1:p.Ala1048Val | |
| NM_014717.1:c.3143C>T | NP_055532.1:p.Ala1048Val | |
| NM_014717.2:c.3143C>T | NP_055532.1:p.Ala1048Val | |
| XM_011527554.1:c.3230C>T | XP_011525856.1:p.Ala1077Val | |
| XM_011527555.1:c.3230C>T | XP_011525857.1:p.Ala1077Val | |
| XM_011527556.1:c.3230C>T | XP_011525858.1:p.Ala1077Val | |
| XM_011527557.1:c.3230C>T | XP_011525859.1:p.Ala1077Val | |
| XM_011527558.1:c.3230C>T | XP_011525860.1:p.Ala1077Val | |
| XM_011527559.1:c.3212C>T | XP_011525861.1:p.Ala1071Val | |
| XM_011527560.1:c.3143C>T | XP_011525862.1:p.Ala1048Val | |
| NM_001352260.1:c.3143C>T | NP_001339189.1:p.Ala1048Val | |
| XM_011527554.2:c.3230C>T | XP_011525856.1:p.Ala1077Val | |
| XM_011527555.2:c.3230C>T | XP_011525857.1:p.Ala1077Val | |
| XM_011527557.2:c.3230C>T | XP_011525859.1:p.Ala1077Val | |
| XM_011527558.2:c.3230C>T | XP_011525860.1:p.Ala1077Val | |
| XM_011527560.2:c.3143C>T | XP_011525862.1:p.Ala1048Val | |
| XM_017027527.1:c.3230C>T | XP_016883016.1:p.Ala1077Val | |
| XM_017027528.1:c.3230C>T | XP_016883017.1:p.Ala1077Val | |
| XM_017027529.1:c.3230C>T | XP_016883018.1:p.Ala1077Val | |
| XM_017027530.1:c.3230C>T | XP_016883019.1:p.Ala1077Val | |
| XM_017027531.1:c.3230C>T | XP_016883020.1:p.Ala1077Val | |
| XM_017027532.1:c.3230C>T | XP_016883021.1:p.Ala1077Val | |
| XM_017027533.1:c.3230C>T | XP_016883022.1:p.Ala1077Val | |
| XM_017027534.1:c.3230C>T | XP_016883023.1:p.Ala1077Val | |
| XM_017027535.1:c.3230C>T | XP_016883024.1:p.Ala1077Val | |
| XM_017027536.1:c.3230C>T | XP_016883025.1:p.Ala1077Val | |
| XM_017027537.1:c.3143C>T | XP_016883026.1:p.Ala1048Val | |
| XM_017027538.1:c.3230C>T | XP_016883027.1:p.Ala1077Val | |
| XM_017027539.1:c.3230C>T | XP_016883028.1:p.Ala1077Val | |
| XM_017027540.1:c.3143C>T | XP_016883029.1:p.Ala1048Val | |
| XM_017027542.1:c.3143C>T | XP_016883031.1:p.Ala1048Val | |
| XM_017027543.2:c.1097C>T | XP_016883032.1:p.Ala366Val | |
| XM_024451807.1:c.3230C>T | XP_024307575.1:p.Ala1077Val | |
| NM_014717.3:c.3143C>T MANE Select | NP_055532.1:p.Ala1048Val | |
| NM_001352260.2:c.3143C>T | NP_001339189.1:p.Ala1048Val | |
| NM_001376110.1:c.3143C>T | NP_001363039.1:p.Ala1048Val | |
| NM_001376111.1:c.3143C>T | NP_001363040.1:p.Ala1048Val |