Linked Data
ClinVar Variation Id:
10356
ClinVar RCV Id:
RCV000011069
dbSNP Id:
rs137852350
PubMed:
PMID:17989220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123482856G>A , CM000685.2:g.123482856G>A | GRCh38 |
| NC_000023.10:g.122616707G>A , CM000685.1:g.122616707G>A | GRCh37 |
| NC_000023.9:g.122444388G>A | NCBI36 |
| NG_009377.2:g.303614G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620443.2:c.2497G>A MANE Select | ENSP00000478489.1:p.Gly833Arg | |
| ENST00000622768.5:c.2497G>A MANE Plus Clinical | ENSP00000481554.1:p.Gly833Arg | |
| ENST00000460123.1:n.134G>A | ||
| ENST00000541091.5:c.2497G>A | ENSP00000446440.2:p.Gly833Arg | |
| ENST00000620443.1:c.2497G>A | ENSP00000478489.1:p.Gly833Arg | |
| ENST00000620581.4:c.*137G>A | ENSP00000481875.1:n.*137G>A | |
| ENST00000622768.4:c.2497G>A | ENSP00000481554.1:p.Gly833Arg | |
| NM_000828.4:c.2497G>A | NP_000819.3:p.Gly833Arg | |
| NM_007325.4:c.2497G>A | NP_015564.4:p.Gly833Arg | |
| NM_007325.5:c.2497G>A MANE Select | NP_015564.5:p.Gly833Arg | |
| NM_000828.5:c.2497G>A MANE Plus Clinical | NP_000819.4:p.Gly833Arg |