Linked Data
ClinVar Variation Id:
10271
ClinVar RCV Id:
RCV000010984
dbSNP Id:
rs28937287
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154906470A>C , CM000685.2:g.154906470A>C | GRCh38 |
| NC_000023.10:g.154134745A>C , CM000685.1:g.154134745A>C | GRCh37 |
| NC_000023.9:g.153787939A>C | NCBI36 |
| NG_011403.1:g.121254T>G | |
| NG_011403.2:g.121254T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5323T>G MANE Select | ENSP00000353393.4:p.Leu1775Val | |
| ENST00000360256.8:c.5323T>G | ENSP00000353393.4:p.Leu1775Val | |
| NM_000132.3:c.5323T>G | NP_000123.1:p.Leu1775Val | |
| XM_011531126.1:c.5218T>G | XP_011529428.1:p.Leu1740Val | |
| NM_000132.4:c.5323T>G MANE Select | NP_000123.1:p.Leu1775Val |