Linked Data
ClinVar Variation Id:
508620
ClinVar RCV Id:
RCV000955029
dbSNP Id:
rs201832487
ExAC:
19:8587708 C / A
gnomAD v2:
19-8587708-C-A
gnomAD v3:
19-8522824-C-A
gnomAD v4:
19-8522824-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8522824C>A , CM000681.2:g.8522824C>A | GRCh38 |
| NC_000019.9:g.8587708C>A , CM000681.1:g.8587708C>A | GRCh37 |
| NC_000019.8:g.8493708C>A | NCBI36 |
| NG_052844.1:g.59624G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644032.2:c.2860G>T MANE Select | ENSP00000494550.1:p.Asp954Tyr | |
| ENST00000338257.12:c.2860G>T | ENSP00000344871.6:p.Asp954Tyr | |
| ENST00000600885.1:n.623G>T | ||
| ENST00000613525.4:c.2860G>T | ENSP00000481682.1:p.Asp954Tyr | |
| NM_012335.3:c.2860G>T | NP_036467.2:p.Asp954Tyr | |
| XM_011528024.1:c.2923G>T | XP_011526326.1:p.Asp975Tyr | |
| XM_011528025.1:c.2911G>T | XP_011526327.1:p.Asp971Tyr | |
| XM_011528026.1:c.2836G>T | XP_011526328.1:p.Asp946Tyr | |
| XM_011528027.1:c.2788G>T | XP_011526329.1:p.Asp930Tyr | |
| XR_936179.1:n.3047G>T | ||
| NM_001348355.1:c.2848G>T | NP_001335284.1:p.Asp950Tyr | |
| XM_011528024.2:c.2923G>T | XP_011526326.1:p.Asp975Tyr | |
| XM_011528025.2:c.2911G>T | XP_011526327.1:p.Asp971Tyr | |
| XM_011528026.2:c.2836G>T | XP_011526328.1:p.Asp946Tyr | |
| XM_011528027.2:c.2788G>T | XP_011526329.1:p.Asp930Tyr | |
| XM_024451522.1:c.1705G>T | XP_024307290.1:p.Asp569Tyr | |
| NM_001348355.2:c.2848G>T | NP_001335284.1:p.Asp950Tyr | |
| NM_012335.4:c.2860G>T MANE Select | NP_036467.2:p.Asp954Tyr |