Linked Data
ClinVar Variation Id:
10141
ClinVar RCV Id:
RCV000010854
dbSNP Id:
rs387906430
PubMed:
PMID:2107542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969355A>G , CM000685.2:g.154969355A>G | GRCh38 |
| NC_000023.10:g.154197630A>G , CM000685.1:g.154197630A>G | GRCh37 |
| NC_000023.9:g.153850824A>G | NCBI36 |
| NG_011403.1:g.58369T>C | |
| NG_011403.2:g.58369T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.985T>C MANE Select | ENSP00000353393.4:p.Cys329Arg | |
| ENST00000647125.1:c.*861T>C | ENSP00000496062.1:n.*861T>C | |
| ENST00000360256.8:c.985T>C | ENSP00000353393.4:p.Cys329Arg | |
| NM_000132.3:c.985T>C | NP_000123.1:p.Cys329Arg | |
| XM_011531126.1:c.880T>C | XP_011529428.1:p.Cys294Arg | |
| NM_000132.4:c.985T>C MANE Select | NP_000123.1:p.Cys329Arg |