Linked Data
ClinVar Variation Id:
758113
ClinVar RCV Id:
RCV000935801
dbSNP Id:
rs149919875
ExAC:
17:39740108 G / A
gnomAD v2:
17-39740108-G-A
gnomAD v3:
17-41583856-G-A
gnomAD v4:
17-41583856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583856G>A , CM000679.2:g.41583856G>A | GRCh38 |
| NC_000017.10:g.39740108G>A , CM000679.1:g.39740108G>A | GRCh37 |
| NC_000017.9:g.36993634G>A | NCBI36 |
| NG_008624.1:g.8040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.831C>T MANE Select | ENSP00000167586.6:p.Gly277= | |
| ENST00000167586.6:c.831C>T | ENSP00000167586.6:p.Gly277= | |
| ENST00000476662.1:n.281C>T | ||
| NM_000526.4:c.831C>T | NP_000517.2:p.Gly277= | |
| NM_000526.5:c.831C>T MANE Select | NP_000517.3:p.Gly277= |