Linked Data
ClinVar Variation Id:
375706
ClinVar RCV Id:
RCV000498961
dbSNP Id:
rs1481421967
gnomAD v4:
X-17731956-C-G
PubMed:
PMID:27148795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17731956C>G , CM000685.2:g.17731956C>G | GRCh38 |
| NC_000023.10:g.17750076C>G , CM000685.1:g.17750076C>G | GRCh37 |
| NC_000023.9:g.17659997C>G | NCBI36 |
| NG_011553.2:g.361537C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.4843C>G | ||
| ENST00000690608.1:n.3725C>G | ||
| ENST00000676302.1:c.4448C>G MANE Select | ENSP00000502262.1:p.Ser1483Cys | |
| ENST00000380060.7:c.4385C>G | ENSP00000369400.3:p.Ser1462Cys | |
| ENST00000398097.7:c.3917C>G | ENSP00000381170.3:p.Ser1306Cys | |
| ENST00000615422.1:c.3908C>G | ENSP00000480113.1:p.Ser1303Cys | |
| ENST00000617601.4:c.3836C>G | ENSP00000478433.1:p.Ser1279Cys | |
| NM_001136024.3:c.3917C>G | NP_001129496.1:p.Ser1306Cys | |
| NM_001291867.1:c.4448C>G | NP_001278796.1:p.Ser1483Cys | |
| NM_001291868.1:c.3854C>G | NP_001278797.1:p.Ser1285Cys | |
| NM_198270.3:c.4385C>G | NP_938011.1:p.Ser1462Cys | |
| XM_011545528.1:c.3500C>G | XP_011543830.1:p.Ser1167Cys | |
| XM_011545528.2:c.3500C>G | XP_011543830.1:p.Ser1167Cys | |
| NM_001136024.4:c.3917C>G | NP_001129496.1:p.Ser1306Cys | |
| NM_001291867.2:c.4448C>G MANE Select | NP_001278796.1:p.Ser1483Cys | |
| NM_001291868.2:c.3854C>G | NP_001278797.1:p.Ser1285Cys | |
| NM_198270.4:c.4385C>G | NP_938011.1:p.Ser1462Cys |