Linked Data
ClinVar Variation Id:
10221
ClinVar RCV Id:
RCV000010934
dbSNP Id:
rs137852415
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957079C>T , CM000685.2:g.154957079C>T | GRCh38 |
| NC_000023.10:g.154185354C>T , CM000685.1:g.154185354C>T | GRCh37 |
| NC_000023.9:g.153838548C>T | NCBI36 |
| NG_011403.1:g.70645G>A | |
| NG_011403.2:g.70645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1630G>A MANE Select | ENSP00000353393.4:p.Asp544Asn | |
| ENST00000647125.1:c.*1506G>A | ENSP00000496062.1:n.*1506G>A | |
| ENST00000360256.8:c.1630G>A | ENSP00000353393.4:p.Asp544Asn | |
| NM_000132.3:c.1630G>A | NP_000123.1:p.Asp544Asn | |
| XM_011531126.1:c.1525G>A | XP_011529428.1:p.Asp509Asn | |
| NM_000132.4:c.1630G>A MANE Select | NP_000123.1:p.Asp544Asn |