Linked Data
ClinVar Variation Id:
375270
ClinVar RCV Id:
RCV000416325
dbSNP Id:
rs61752113
PubMed:
PMID:17041890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61048495T>G , CM000664.2:g.61048495T>G | GRCh38 |
| NC_000002.11:g.61275630T>G , CM000664.1:g.61275630T>G | GRCh37 |
| NC_000002.10:g.61129134T>G | NCBI36 |
| NG_008665.1:g.35819T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.937T>G MANE Select | ENSP00000295030.4:p.Trp313Gly | |
| ENST00000295030.5:c.937T>G | ENSP00000295030.4:p.Trp313Gly | |
| NM_002618.3:c.937T>G | NP_002609.1:p.Trp313Gly | |
| XM_011532904.1:c.820T>G | XP_011531206.1:p.Trp274Gly | |
| NM_002618.4:c.937T>G MANE Select | NP_002609.1:p.Trp313Gly |