Linked Data
ClinVar Variation Id:
10209
ClinVar RCV Id:
RCV000010922
dbSNP Id:
rs28933671
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966471T>C , CM000685.2:g.154966471T>C | GRCh38 |
| NC_000023.10:g.154194746T>C , CM000685.1:g.154194746T>C | GRCh37 |
| NC_000023.9:g.153847940T>C | NCBI36 |
| NG_011403.1:g.61253A>G | |
| NG_011403.2:g.61253A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1226A>G MANE Select | ENSP00000353393.4:p.Glu409Gly | |
| ENST00000647125.1:c.*1102A>G | ENSP00000496062.1:n.*1102A>G | |
| ENST00000360256.8:c.1226A>G | ENSP00000353393.4:p.Glu409Gly | |
| ENST00000483822.2:n.46A>G | ||
| NM_000132.3:c.1226A>G | NP_000123.1:p.Glu409Gly | |
| XM_011531126.1:c.1121A>G | XP_011529428.1:p.Glu374Gly | |
| NM_000132.4:c.1226A>G MANE Select | NP_000123.1:p.Glu409Gly |