Linked Data
ClinVar Variation Id:
10179
ClinVar RCV Id:
RCV000010892
dbSNP Id:
rs137852396
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987242T>A , CM000685.2:g.154987242T>A | GRCh38 |
| NC_000023.10:g.154215517T>A , CM000685.1:g.154215517T>A | GRCh37 |
| NC_000023.9:g.153868711T>A | NCBI36 |
| NG_011403.1:g.40482A>T | |
| NG_011403.2:g.40482A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.665A>T MANE Select | ENSP00000353393.4:p.Asp222Val | |
| ENST00000647125.1:c.*451A>T | ENSP00000496062.1:n.*451A>T | |
| ENST00000360256.8:c.665A>T | ENSP00000353393.4:p.Asp222Val | |
| ENST00000423959.5:c.560A>T | ENSP00000409446.1:p.Asp187Val | |
| NM_000132.3:c.665A>T | NP_000123.1:p.Asp222Val | |
| XM_011531126.1:c.560A>T | XP_011529428.1:p.Asp187Val | |
| NM_000132.4:c.665A>T MANE Select | NP_000123.1:p.Asp222Val |