Linked Data
ClinVar Variation Id:
10311
ClinVar RCV Id:
RCV000011024
dbSNP Id:
rs137852460
gnomAD v4:
X-154896093-G-T
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896093G>T , CM000685.2:g.154896093G>T | GRCh38 |
| NC_000023.10:g.154124368G>T , CM000685.1:g.154124368G>T | GRCh37 |
| NC_000023.9:g.153777562G>T | NCBI36 |
| NG_011403.1:g.131631C>A | |
| NG_011403.2:g.131631C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6413C>A MANE Select | ENSP00000353393.4:p.Ser2138Tyr | |
| ENST00000360256.8:c.6413C>A | ENSP00000353393.4:p.Ser2138Tyr | |
| NM_000132.3:c.6413C>A | NP_000123.1:p.Ser2138Tyr | |
| XM_011531126.1:c.6308C>A | XP_011529428.1:p.Ser2103Tyr | |
| NM_000132.4:c.6413C>A MANE Select | NP_000123.1:p.Ser2138Tyr |