Linked Data
ClinVar Variation Id:
10178
ClinVar RCV Id:
RCV000010891
dbSNP Id:
rs137852395
PubMed:
PMID:1924291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992983T>G , CM000685.2:g.154992983T>G | GRCh38 |
| NC_000023.10:g.154221258T>G , CM000685.1:g.154221258T>G | GRCh37 |
| NC_000023.9:g.153874452T>G | NCBI36 |
| NG_011403.1:g.34741A>C | |
| NG_011403.2:g.34741A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.554A>C MANE Select | ENSP00000353393.4:p.Lys185Thr | |
| ENST00000647125.1:c.*340A>C | ENSP00000496062.1:n.*340A>C | |
| ENST00000360256.8:c.554A>C | ENSP00000353393.4:p.Lys185Thr | |
| ENST00000423959.5:c.449A>C | ENSP00000409446.1:p.Lys150Thr | |
| NM_000132.3:c.554A>C | NP_000123.1:p.Lys185Thr | |
| XM_011531126.1:c.449A>C | XP_011529428.1:p.Lys150Thr | |
| NM_000132.4:c.554A>C MANE Select | NP_000123.1:p.Lys185Thr |