Linked Data
ClinVar Variation Id:
1044
ClinVar RCV Id:
RCV000001099
dbSNP Id:
rs121918217
gnomAD v4:
16-74774653-C-A
PubMed:
PMID:19068277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774653C>A , CM000678.2:g.74774653C>A | GRCh38 |
| NC_000016.9:g.74808551C>A , CM000678.1:g.74808551C>A | GRCh37 |
| NC_000016.8:g.73366052C>A | NCBI36 |
| NG_017070.1:g.5179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.103G>T MANE Select | ENSP00000219368.3:p.Asp35Tyr | |
| ENST00000219368.7:c.103G>T | ENSP00000219368.3:p.Asp35Tyr | |
| ENST00000567683.5:c.103G>T | ENSP00000455126.1:p.Asp35Tyr | |
| NM_024306.4:c.103G>T | NP_077282.3:p.Asp35Tyr | |
| XM_011523317.1:c.103G>T | XP_011521619.1:p.Asp35Tyr | |
| XM_011523318.1:c.103G>T | XP_011521620.1:p.Asp35Tyr | |
| XM_011523317.3:c.103G>T | XP_011521619.1:p.Asp35Tyr | |
| NM_024306.5:c.103G>T MANE Select | NP_077282.3:p.Asp35Tyr |