Linked Data
ClinVar Variation Id:
161129
ClinVar RCV Id:
RCV001381007
dbSNP Id:
rs606231432
PubMed:
PMID:20301294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41982028C>A , CM000681.2:g.41982028C>A | GRCh38 |
| NC_000019.9:g.42486180C>A , CM000681.1:g.42486180C>A | GRCh37 |
| NC_000019.8:g.47178020C>A | NCBI36 |
| NG_008015.1:g.17203G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.1111G>T | ENSP00000444688.1:p.Gly371Cys | |
| ENST00000644613.1:c.1072G>T | ENSP00000494711.1:p.Gly358Cys | |
| ENST00000648268.1:c.1072G>T MANE Select | ENSP00000498113.1:p.Gly358Cys | |
| ENST00000302102.9:c.1072G>T | ENSP00000302397.5:p.Gly358Cys | |
| ENST00000441343.5:c.1072G>T | ENSP00000411503.1:p.Gly358Cys | |
| ENST00000543770.5:c.1105G>T | ENSP00000437577.1:p.Gly369Cys | |
| ENST00000545399.5:c.1111G>T | ENSP00000444688.1:p.Gly371Cys | |
| ENST00000602133.5:c.982G>T | ENSP00000471581.1:p.Gly328Cys | |
| NM_001256213.1:c.1105G>T | NP_001243142.1:p.Gly369Cys | |
| NM_001256214.1:c.1111G>T | NP_001243143.1:p.Gly371Cys | |
| NM_152296.4:c.1072G>T | NP_689509.1:p.Gly358Cys | |
| XM_011526991.1:c.982G>T | XP_011525293.1:p.Gly328Cys | |
| NM_152296.5:c.1072G>T MANE Select | NP_689509.1:p.Gly358Cys | |
| NM_001256214.2:c.1111G>T | NP_001243143.1:p.Gly371Cys | |
| NM_001256213.2:c.1105G>T | NP_001243142.1:p.Gly369Cys |