Linked Data
ClinVar Variation Id:
17838
ClinVar RCV Id:
RCV000019416
dbSNP Id:
rs104894336
ExAC:
12:50344677 C / G
gnomAD v2:
12-50344677-C-G
gnomAD v3:
12-49950894-C-G
gnomAD v4:
12-49950894-C-G
PubMed:
PMID:9302264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950894C>G , CM000674.2:g.49950894C>G | GRCh38 |
| NC_000012.11:g.50344677C>G , CM000674.1:g.50344677C>G | GRCh37 |
| NC_000012.10:g.48630944C>G | NCBI36 |
| NG_008913.1:g.5154C>G , LRG_717:g.5154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.64C>G MANE Select | ENSP00000199280.3:p.Leu22Val | |
| ENST00000199280.3:c.64C>G | ENSP00000199280.3:p.Leu22Val | |
| ENST00000550862.1:c.64C>G | ENSP00000450022.1:p.Leu22Val | |
| ENST00000551526.5:c.64C>G | ENSP00000447148.1:p.Leu22Val | |
| NM_000486.5:c.64C>G , LRG_717t1:c.64C>G | NP_000477.1:p.Leu22Val | |
| NM_000486.6:c.64C>G MANE Select | NP_000477.1:p.Leu22Val |