Linked Data
ClinVar Variation Id:
10212
ClinVar RCV Id:
RCV000010925
dbSNP Id:
rs28937272
PubMed:
PMID:1908096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966082T>C , CM000685.2:g.154966082T>C | GRCh38 |
| NC_000023.10:g.154194357T>C , CM000685.1:g.154194357T>C | GRCh37 |
| NC_000023.9:g.153847551T>C | NCBI36 |
| NG_011403.1:g.61642A>G | |
| NG_011403.2:g.61642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1331A>G MANE Select | ENSP00000353393.4:p.Lys444Arg | |
| ENST00000647125.1:c.*1207A>G | ENSP00000496062.1:n.*1207A>G | |
| ENST00000360256.8:c.1331A>G | ENSP00000353393.4:p.Lys444Arg | |
| ENST00000483822.2:n.151A>G | ||
| NM_000132.3:c.1331A>G | NP_000123.1:p.Lys444Arg | |
| XM_011531126.1:c.1226A>G | XP_011529428.1:p.Lys409Arg | |
| NM_000132.4:c.1331A>G MANE Select | NP_000123.1:p.Lys444Arg |