Linked Data
ClinVar Variation Id:
496555
dbSNP Id:
rs772294726
ExAC:
5:60394822 G / A
gnomAD v2:
5-60394822-G-A
gnomAD v3:
5-61098995-G-A
gnomAD v4:
5-61098995-G-A
PubMed:
PMID:20818383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61098995G>A , CM000667.2:g.61098995G>A | GRCh38 |
| NC_000005.9:g.60394822G>A , CM000667.1:g.60394822G>A | GRCh37 |
| NC_000005.8:g.60430579G>A | NCBI36 |
| NG_008978.1:g.158867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.221G>A MANE Select | ENSP00000296597.5:p.Trp74Ter | |
| ENST00000677756.1:c.*237G>A | ENSP00000503642.1:n.*237G>A | |
| ENST00000677932.1:c.221G>A | ENSP00000504750.1:p.Trp74Ter | |
| ENST00000678452.1:c.*51G>A | ENSP00000504248.1:n.*51G>A | |
| ENST00000296597.9:c.221G>A | ENSP00000296597.5:p.Trp74Ter | |
| ENST00000502658.1:c.138+25781G>A | ||
| ENST00000511107.1:c.177G>A | ENSP00000423377.1:p.Leu59= | |
| ENST00000512623.1:n.346G>A | ||
| NM_174889.4:c.221G>A | NP_777549.1:p.Trp74Ter | |
| NM_174889.5:c.221G>A MANE Select | NP_777549.1:p.Trp74Ter |