Linked Data
ClinVar Variation Id:
40042
ClinVar RCV Id:
RCV000033140
dbSNP Id:
rs397514631
gnomAD v4:
11-64759747-T-C
PubMed:
PMID:21880526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759747T>C , CM000673.2:g.64759747T>C | GRCh38 |
| NC_000011.9:g.64527219T>C , CM000673.1:g.64527219T>C | GRCh37 |
| NC_000011.8:g.64283795T>C | NCBI36 |
| NG_013018.1:g.5969A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.152A>G MANE Select | ENSP00000164139.3:p.Asp51Gly | |
| ENST00000164139.3:c.152A>G | ENSP00000164139.3:p.Asp51Gly | |
| ENST00000377432.7:c.152A>G | ENSP00000366650.3:p.Asp51Gly | |
| NM_001164716.1:c.152A>G | NP_001158188.1:p.Asp51Gly | |
| NM_005609.2:c.152A>G | NP_005600.1:p.Asp51Gly | |
| NM_005609.3:c.152A>G | NP_005600.1:p.Asp51Gly | |
| NM_005609.4:c.152A>G MANE Select | NP_005600.1:p.Asp51Gly |