Linked Data
ClinVar Variation Id:
10129
ClinVar RCV Id:
RCV000010842
dbSNP Id:
rs137852367
PubMed:
PMID:2510835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992971G>A , CM000685.2:g.154992971G>A | GRCh38 |
| NC_000023.10:g.154221246G>A , CM000685.1:g.154221246G>A | GRCh37 |
| NC_000023.9:g.153874440G>A | NCBI36 |
| NG_011403.1:g.34753C>T | |
| NG_011403.2:g.34753C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.566C>T MANE Select | ENSP00000353393.4:p.Ser189Leu | |
| ENST00000647125.1:c.*352C>T | ENSP00000496062.1:n.*352C>T | |
| ENST00000360256.8:c.566C>T | ENSP00000353393.4:p.Ser189Leu | |
| ENST00000423959.5:c.461C>T | ENSP00000409446.1:p.Ser154Leu | |
| NM_000132.3:c.566C>T | NP_000123.1:p.Ser189Leu | |
| XM_011531126.1:c.461C>T | XP_011529428.1:p.Ser154Leu | |
| NM_000132.4:c.566C>T MANE Select | NP_000123.1:p.Ser189Leu |