Linked Data
ClinVar Variation Id:
10223
ClinVar RCV Id:
RCV000010936
dbSNP Id:
rs137852417
gnomAD v3:
X-154957061-G-A
gnomAD v4:
X-154957061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957061G>A , CM000685.2:g.154957061G>A | GRCh38 |
| NC_000023.10:g.154185336G>A , CM000685.1:g.154185336G>A | GRCh37 |
| NC_000023.9:g.153838530G>A | NCBI36 |
| NG_011403.1:g.70663C>T | |
| NG_011403.2:g.70663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1648C>T MANE Select | ENSP00000353393.4:p.Arg550Cys | |
| ENST00000647125.1:c.*1524C>T | ENSP00000496062.1:n.*1524C>T | |
| ENST00000360256.8:c.1648C>T | ENSP00000353393.4:p.Arg550Cys | |
| NM_000132.3:c.1648C>T | NP_000123.1:p.Arg550Cys | |
| XM_011531126.1:c.1543C>T | XP_011529428.1:p.Arg515Cys | |
| NM_000132.4:c.1648C>T MANE Select | NP_000123.1:p.Arg550Cys |