Linked Data
ClinVar Variation Id:
225841
ClinVar RCV Id:
RCV000211077
dbSNP Id:
rs875989847
gnomAD v2:
8-30464658-C-A
gnomAD v4:
8-30607141-C-A
PubMed:
PMID:26996949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30607141C>A , CM000670.2:g.30607141C>A | GRCh38 |
| NC_000008.10:g.30464658C>A , CM000670.1:g.30464658C>A | GRCh37 |
| NC_000008.9:g.30584200C>A | NCBI36 |
| NG_052833.1:g.56101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355904.9:c.559G>T MANE Select | ENSP00000348168.4:p.Asp187Tyr | |
| ENST00000355904.8:c.559G>T | ENSP00000348168.4:p.Asp187Tyr | |
| ENST00000518599.5:c.559G>T | ENSP00000429921.1:p.Asp187Tyr | |
| ENST00000522833.5:n.77G>T | ||
| ENST00000523499.5:c.*398G>T | ENSP00000428981.1:n.*398G>T | |
| NM_002095.4:c.559G>T | NP_002086.1:p.Asp187Tyr | |
| XM_011544509.1:c.559G>T | XP_011542811.1:p.Asp187Tyr | |
| XM_011544510.1:c.559G>T | XP_011542812.1:p.Asp187Tyr | |
| NM_001348353.1:c.559G>T | NP_001335282.1:p.Asp187Tyr | |
| NM_002095.5:c.559G>T | NP_002086.1:p.Asp187Tyr | |
| XM_011544509.2:c.559G>T | XP_011542811.1:p.Asp187Tyr | |
| XM_017013363.1:c.559G>T | XP_016868852.1:p.Asp187Tyr | |
| XM_017013364.1:c.559G>T | XP_016868853.1:p.Asp187Tyr | |
| XM_024447138.1:c.559G>T | XP_024302906.1:p.Asp187Tyr | |
| NM_002095.6:c.559G>T MANE Select | NP_002086.1:p.Asp187Tyr |