Linked Data
ClinVar Variation Id:
16934
ClinVar RCV Id:
RCV000018442
dbSNP Id:
rs104894509
gnomAD v4:
16-21258781-T-A
PubMed:
PMID:12471561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21258781T>A , CM000678.2:g.21258781T>A | GRCh38 |
| NC_000016.9:g.21270102T>A , CM000678.1:g.21270102T>A | GRCh37 |
| NC_000016.8:g.21177603T>A | NCBI36 |
| NG_011610.1:g.49316A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219599.8:c.945A>T | ENSP00000219599.3:p.Ter315Tyr | |
| ENST00000572914.2:c.945A>T MANE Select | ENSP00000461904.2:p.Ter315Tyr | |
| ENST00000219599.7:c.945A>T | ENSP00000219599.3:p.Ter315Tyr | |
| ENST00000543948.5:c.945A>T | ENSP00000440227.1:p.Ter315Tyr | |
| ENST00000570401.5:c.264+8A>T | ||
| ENST00000574448.5:c.*520+2473A>T | ENSP00000459982.1:n.*520+2473A>T | |
| NM_001888.4:c.945A>T | NP_001879.1:p.Ter315Tyr | |
| XM_011545740.1:c.945A>T | XP_011544042.1:p.Ter315Tyr | |
| XR_950904.1:n.735+3988T>A | ||
| XM_024450157.1:c.945A>T | XP_024305925.1:p.Ter315Tyr | |
| NM_001888.5:c.945A>T | NP_001879.1:p.Ter315Tyr | |
| NM_001376256.1:c.945A>T MANE Select | NP_001363185.1:p.Ter315Tyr |