Linked Data
ClinVar Variation Id:
10248
ClinVar RCV Id:
RCV000010961
dbSNP Id:
rs2228152
PubMed:
PMID:1979502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154931407T>A , CM000685.2:g.154931407T>A | GRCh38 |
| NC_000023.10:g.154159682T>A , CM000685.1:g.154159682T>A | GRCh37 |
| NC_000023.9:g.153812876T>A | NCBI36 |
| NG_011403.1:g.96317A>T | |
| NG_011403.2:g.96317A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.2383A>T MANE Select | ENSP00000353393.4:p.Arg795Ter | |
| ENST00000647125.1:c.*2049A>T | ENSP00000496062.1:n.*2049A>T | |
| ENST00000360256.8:c.2383A>T | ENSP00000353393.4:p.Arg795Ter | |
| NM_000132.3:c.2383A>T | NP_000123.1:p.Arg795Ter | |
| XM_011531126.1:c.2278A>T | XP_011529428.1:p.Arg760Ter | |
| NM_000132.4:c.2383A>T MANE Select | NP_000123.1:p.Arg795Ter |