Linked Data
ClinVar Variation Id:
10176
ClinVar RCV Id:
RCV000010889
dbSNP Id:
rs137852393
gnomAD v2:
X-154221319-G-A
gnomAD v4:
X-154993044-G-A
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993044G>A , CM000685.2:g.154993044G>A | GRCh38 |
| NC_000023.10:g.154221319G>A , CM000685.1:g.154221319G>A | GRCh37 |
| NC_000023.9:g.153874513G>A | NCBI36 |
| NG_011403.1:g.34680C>T | |
| NG_011403.2:g.34680C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.493C>T MANE Select | ENSP00000353393.4:p.Pro165Ser | |
| ENST00000647125.1:c.*279C>T | ENSP00000496062.1:n.*279C>T | |
| ENST00000360256.8:c.493C>T | ENSP00000353393.4:p.Pro165Ser | |
| ENST00000423959.5:c.388C>T | ENSP00000409446.1:p.Pro130Ser | |
| ENST00000453950.1:c.475C>T | ENSP00000389153.1:p.Pro159Ser | |
| NM_000132.3:c.493C>T | NP_000123.1:p.Pro165Ser | |
| XM_011531126.1:c.388C>T | XP_011529428.1:p.Pro130Ser | |
| NM_000132.4:c.493C>T MANE Select | NP_000123.1:p.Pro165Ser |