Linked Data
ClinVar Variation Id:
10242
ClinVar RCV Id:
RCV000010955
dbSNP Id:
rs137852433
gnomAD v4:
X-154947823-G-A
PubMed:
PMID:1924291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154947823G>A , CM000685.2:g.154947823G>A | GRCh38 |
| NC_000023.10:g.154176098G>A , CM000685.1:g.154176098G>A | GRCh37 |
| NC_000023.9:g.153829292G>A | NCBI36 |
| NG_011403.1:g.79901C>T | |
| NG_011403.2:g.79901C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1988C>T MANE Select | ENSP00000353393.4:p.Ala663Val | |
| ENST00000647125.1:c.*1779+6069C>T | ENSP00000496062.1:n.*1779+6069C>T | |
| ENST00000360256.8:c.1988C>T | ENSP00000353393.4:p.Ala663Val | |
| NM_000132.3:c.1988C>T | NP_000123.1:p.Ala663Val | |
| XM_011531126.1:c.1883C>T | XP_011529428.1:p.Ala628Val | |
| NM_000132.4:c.1988C>T MANE Select | NP_000123.1:p.Ala663Val |