Linked Data
ClinVar Variation Id:
2951297
ClinVar RCV Id:
RCV003802559
dbSNP Id:
rs758978218
ExAC:
9:101983931 G / A
gnomAD v2:
9-101983931-G-A
gnomAD v4:
9-99221649-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221649G>A , CM000671.2:g.99221649G>A | GRCh38 |
| NC_000009.11:g.101983931G>A , CM000671.1:g.101983931G>A | GRCh37 |
| NC_000009.10:g.101023752G>A | NCBI36 |
| NG_008928.1:g.5316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.246C>T MANE Select | ENSP00000417764.1:p.Gly82= | |
| ENST00000238477.5:c.246C>T | ENSP00000432675.2:p.Gly82= | |
| ENST00000476832.1:c.246C>T | ENSP00000417764.1:p.Gly82= | |
| NM_033087.3:c.246C>T | NP_149078.1:p.Gly82= | |
| NR_024532.1:n.316C>T | ||
| NM_033087.4:c.246C>T MANE Select | NP_149078.1:p.Gly82= | |
| NR_024532.2:n.294C>T |