Linked Data
ClinVar Variation Id:
417972
ClinVar RCV Id:
RCV000477970
dbSNP Id:
rs1060505057
gnomAD v3:
6-31723901-C-A
gnomAD v4:
6-31723901-C-A
PubMed:
PMID:27743390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31723901C>A , CM000668.2:g.31723901C>A | GRCh38 |
| NC_000006.11:g.31691678C>A , CM000668.1:g.31691678C>A | GRCh37 |
| NC_000006.10:g.31799657C>A | NCBI36 |
| NG_029044.1:g.5558C>A | |
| NG_029044.2:g.5558C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649779.1:c.324C>A MANE Select | ENSP00000497720.1:p.Cys108Ter | |
| ENST00000375804.6:c.324C>A | ENSP00000364962.2:p.Cys108Ter | |
| ENST00000375805.6:c.324C>A | ENSP00000364963.2:p.Cys108Ter | |
| ENST00000375806.2:c.324C>A | ENSP00000364964.2:p.Cys108Ter | |
| ENST00000375809.7:c.324C>A | ENSP00000364967.3:p.Cys108Ter | |
| ENST00000375810.8:c.324C>A | ENSP00000364968.4:p.Cys108Ter | |
| ENST00000375814.7:c.324C>A | ENSP00000364972.3:p.Cys108Ter | |
| ENST00000460663.5:n.531C>A | ||
| ENST00000466312.5:n.328C>A | ||
| ENST00000471545.1:n.324C>A | ||
| ENST00000480039.5:c.324C>A | ENSP00000419306.1:p.Cys108Ter | |
| ENST00000485548.5:c.268+56C>A | ENSP00000420355.1:n.268+56C>A | |
| NM_025260.3:c.324C>A | NP_079536.2:p.Cys108Ter | |
| NM_138272.2:c.324C>A | NP_612116.1:p.Cys108Ter | |
| NM_138273.2:c.324C>A | NP_612117.1:p.Cys108Ter | |
| NM_138274.2:c.324C>A | NP_612118.1:p.Cys108Ter | |
| NM_138275.2:c.324C>A | NP_612119.1:p.Cys108Ter | |
| NM_138277.2:c.324C>A | NP_612121.1:p.Cys108Ter | |
| XM_011514920.1:c.372C>A | XP_011513222.1:p.Cys124Ter | |
| XM_011514921.1:c.372C>A | XP_011513223.1:p.Cys124Ter | |
| XM_011514920.2:c.372C>A | XP_011513222.1:p.Cys124Ter | |
| XM_011514921.2:c.372C>A | XP_011513223.1:p.Cys124Ter | |
| XM_017011330.1:c.372C>A | XP_016866819.1:p.Cys124Ter | |
| XM_017011331.1:c.324C>A | XP_016866820.1:p.Cys108Ter | |
| XM_017011332.1:c.372C>A | XP_016866821.1:p.Cys124Ter | |
| XM_017011333.1:c.372C>A | XP_016866822.1:p.Cys124Ter | |
| NM_025260.4:c.324C>A | NP_079536.2:p.Cys108Ter | |
| NM_138272.3:c.324C>A MANE Select | NP_612116.1:p.Cys108Ter | |
| NM_138273.3:c.324C>A | NP_612117.1:p.Cys108Ter | |
| NM_138274.3:c.324C>A | NP_612118.1:p.Cys108Ter | |
| NM_138275.3:c.324C>A | NP_612119.1:p.Cys108Ter | |
| NM_138277.3:c.324C>A | NP_612121.1:p.Cys108Ter |