Linked Data
ClinVar Variation Id:
224862
ClinVar RCV Id:
RCV000210441
dbSNP Id:
rs869312899
gnomAD v3:
1-175386077-G-A
gnomAD v4:
1-175386077-G-A
COSMIC:
COSM306032
PubMed:
PMID:26595808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.175386077G>A , CM000663.2:g.175386077G>A | GRCh38 |
| NC_000001.10:g.175355213G>A , CM000663.1:g.175355213G>A | GRCh37 |
| NC_000001.9:g.173621836G>A | NCBI36 |
| NG_050931.1:g.362626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367674.7:c.1732C>T MANE Select | ENSP00000356646.1:p.Arg578Ter | |
| ENST00000263525.6:c.1732C>T | ENSP00000263525.2:p.Arg578Ter | |
| ENST00000367674.6:c.1732C>T | ENSP00000356646.1:p.Arg578Ter | |
| NM_003285.2:c.1732C>T | NP_003276.3:p.Arg578Ter | |
| XM_011509947.1:c.1732C>T | XP_011508249.1:p.Arg578Ter | |
| XM_011509948.1:c.1468C>T | XP_011508250.1:p.Arg490Ter | |
| XM_011509949.1:c.1255C>T | XP_011508251.1:p.Arg419Ter | |
| NM_001328635.1:c.733C>T | NP_001315564.1:p.Arg245Ter | |
| XM_011509949.2:c.1255C>T | XP_011508251.1:p.Arg419Ter | |
| XM_017002218.1:c.1732C>T | XP_016857707.1:p.Arg578Ter | |
| XM_017002219.1:c.1732C>T | XP_016857708.1:p.Arg578Ter | |
| NM_003285.3:c.1732C>T MANE Select | NP_003276.3:p.Arg578Ter | |
| NM_001328635.2:c.733C>T | NP_001315564.1:p.Arg245Ter |