Linked Data
ClinVar Variation Id:
3671
ClinVar RCV Id:
RCV002496248
dbSNP Id:
rs121908055
ExAC:
16:67976870 G / T
gnomAD v2:
16-67976870-G-T
gnomAD v3:
16-67942967-G-T
gnomAD v4:
16-67942967-G-T
PubMed:
PMID:8432868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942967G>T , CM000678.2:g.67942967G>T | GRCh38 |
| NC_000016.9:g.67976870G>T , CM000678.1:g.67976870G>T | GRCh37 |
| NC_000016.8:g.66534371G>T | NCBI36 |
| NG_009778.1:g.6146C>A | |
| NG_033098.1:g.30728C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.321C>A MANE Select | ENSP00000264005.5:p.Tyr107Ter | |
| ENST00000264005.9:c.321C>A | ENSP00000264005.5:p.Tyr107Ter | |
| ENST00000570369.5:c.49C>A | ||
| ENST00000570980.1:c.105C>A | ENSP00000464651.1:p.Tyr35Ter | |
| ENST00000575277.1:n.99C>A | ||
| ENST00000575467.5:c.*16C>A | ENSP00000460653.1:n.*16C>A | |
| NM_000229.1:c.321C>A | NP_000220.1:p.Tyr107Ter | |
| NM_000229.2:c.321C>A MANE Select | NP_000220.1:p.Tyr107Ter |