Linked Data
ClinVar Variation Id:
780516
ClinVar RCV Id:
RCV000961592
dbSNP Id:
rs114442248
ExAC:
5:10280729 G / A
gnomAD v2:
5-10280729-G-A
gnomAD v3:
5-10280617-G-A
gnomAD v4:
5-10280617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10280617G>A , CM000667.2:g.10280617G>A | GRCh38 |
| NC_000005.9:g.10280729G>A , CM000667.1:g.10280729G>A | GRCh37 |
| NC_000005.8:g.10333729G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.574C>T MANE Select | ENSP00000296658.3:p.Gln192Ter | |
| ENST00000296658.3:c.574C>T | ENSP00000296658.3:p.Gln192Ter | |
| ENST00000503834.1:n.92+1580C>T | ||
| ENST00000510532.5:n.550C>T | ||
| NM_138809.3:c.574C>T | NP_620164.1:p.Gln192Ter | |
| NM_138809.4:c.574C>T MANE Select | NP_620164.1:p.Gln192Ter |