Linked Data
ClinVar Variation Id:
1953548
ClinVar RCV Id:
RCV002681834
dbSNP Id:
rs746337039
ExAC:
19:36223746 C / T
gnomAD v2:
19-36223746-C-T
gnomAD v4:
19-35732845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732845C>T , CM000681.2:g.35732845C>T | GRCh38 |
| NC_000019.9:g.36223746C>T , CM000681.1:g.36223746C>T | GRCh37 |
| NC_000019.8:g.40915586C>T | NCBI36 |
| NG_052906.1:g.19827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.602C>T | ||
| ENST00000673918.2:c.6230C>T | ENSP00000501283.1:p.Ala2077Val | |
| ENST00000674114.2:c.3837C>T | ENSP00000501039.2:n.3837C>T | |
| ENST00000684977.1:c.1514C>T | ENSP00000509384.1:p.Ala505Val | |
| ENST00000689544.1:n.1449C>T | ||
| ENST00000691421.1:c.1517C>T | ENSP00000508674.1:p.Ala506Val | |
| ENST00000691855.1:c.5838C>T | ||
| ENST00000692961.1:c.6296C>T | ENSP00000509289.1:p.Ala2099Val | |
| ENST00000693677.1:c.704+516C>T | ENSP00000509779.1:n.704+516C>T | |
| ENST00000420124.4:c.6296C>T MANE Select | ENSP00000398837.2:p.Ala2099Val | |
| ENST00000673918.1:c.6230C>T | ENSP00000501283.1:p.Ala2077Val | |
| ENST00000674114.1:c.3618C>T | ||
| ENST00000420124.2:c.6296C>T | ENSP00000398837.1:p.Ala2099Val | |
| NM_014727.2:c.6296C>T | NP_055542.1:p.Ala2099Val | |
| XM_011527561.1:c.6230C>T | XP_011525863.1:p.Ala2077Val | |
| XM_011527562.1:c.6296C>T | XP_011525864.1:p.Ala2099Val | |
| XM_011527563.1:c.6020C>T | XP_011525865.1:p.Ala2007Val | |
| XM_011527561.2:c.5732C>T | XP_011525863.2:p.Ala1911Val | |
| XM_011527562.2:c.6296C>T | XP_011525864.1:p.Ala2099Val | |
| XM_017027544.1:c.6296C>T | XP_016883033.1:p.Ala2099Val | |
| XM_017027545.1:c.5732C>T | XP_016883034.1:p.Ala1911Val | |
| XM_017027546.1:c.3260C>T | XP_016883035.1:p.Ala1087Val | |
| NM_014727.3:c.6296C>T MANE Select | NP_055542.1:p.Ala2099Val |