Linked Data
ClinVar Variation Id:
10189
ClinVar RCV Id:
RCV000010902
dbSNP Id:
rs137852400
PubMed:
PMID:1908096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969486A>C , CM000685.2:g.154969486A>C | GRCh38 |
| NC_000023.10:g.154197761A>C , CM000685.1:g.154197761A>C | GRCh37 |
| NC_000023.9:g.153850955A>C | NCBI36 |
| NG_011403.1:g.58238T>G | |
| NG_011403.2:g.58238T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.854T>G MANE Select | ENSP00000353393.4:p.Val285Gly | |
| ENST00000647125.1:c.*730T>G | ENSP00000496062.1:n.*730T>G | |
| ENST00000360256.8:c.854T>G | ENSP00000353393.4:p.Val285Gly | |
| NM_000132.3:c.854T>G | NP_000123.1:p.Val285Gly | |
| XM_011531126.1:c.749T>G | XP_011529428.1:p.Val250Gly | |
| NM_000132.4:c.854T>G MANE Select | NP_000123.1:p.Val285Gly |