Linked Data
ClinVar Variation Id:
1975729
ClinVar RCV Id:
RCV002746738
dbSNP Id:
rs201827132
gnomAD v2:
12-124171431-G-A
gnomAD v3:
12-123686884-G-A
gnomAD v4:
12-123686884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123686884G>A , CM000674.2:g.123686884G>A | GRCh38 |
| NC_000012.11:g.124171431G>A , CM000674.1:g.124171431G>A | GRCh37 |
| NC_000012.10:g.122737384G>A | NCBI36 |
| NG_030442.1:g.20772G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303372.7:c.613G>A MANE Select | ENSP00000304941.5:p.Gly205Ser | |
| ENST00000679504.1:c.610G>A | ENSP00000505006.1:p.Gly204Ser | |
| ENST00000680500.1:c.613G>A | ENSP00000506438.1:p.Gly205Ser | |
| ENST00000680574.1:c.613G>A | ENSP00000505356.1:p.Gly205Ser | |
| ENST00000303372.6:c.613G>A | ENSP00000304941.5:p.Gly205Ser | |
| ENST00000426174.6:c.610G>A | ENSP00000395171.2:p.Gly204Ser | |
| NM_001143850.2:c.610G>A | NP_001137322.1:p.Gly204Ser | |
| NM_024809.4:c.613G>A | NP_079085.2:p.Gly205Ser | |
| XM_005253623.2:c.613G>A | XP_005253680.1:p.Gly205Ser | |
| XM_006719605.2:c.613G>A | XP_006719668.1:p.Gly205Ser | |
| XM_006719605.3:c.613G>A | XP_006719668.1:p.Gly205Ser | |
| XM_017019974.1:c.610G>A | XP_016875463.1:p.Gly204Ser | |
| XM_017019975.1:c.-173G>A | XP_016875464.1:n.-173G>A | |
| NM_024809.5:c.613G>A MANE Select | NP_079085.2:p.Gly205Ser | |
| NM_001143850.3:c.610G>A | NP_001137322.1:p.Gly204Ser |