Linked Data
ClinVar Variation Id:
406142
dbSNP Id:
rs782706577
ExAC:
6:112430654 A / G
gnomAD v2:
6-112430654-A-G
gnomAD v3:
6-112109451-A-G
gnomAD v4:
6-112109451-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112109451A>G , CM000668.2:g.112109451A>G | GRCh38 |
| NC_000006.11:g.112430654A>G , CM000668.1:g.112430654A>G | GRCh37 |
| NC_000006.10:g.112537347A>G | NCBI36 |
| NG_008209.1:g.150175T>C , LRG_433:g.150175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.5458T>C MANE Select | ENSP00000230538.7:p.Cys1820Arg | |
| ENST00000389463.9:c.5437T>C | ENSP00000374114.4:p.Cys1813Arg | |
| ENST00000651529.1:c.1476T>C | ||
| ENST00000651860.1:c.3181T>C | ENSP00000498842.1:p.Cys1061Arg | |
| ENST00000230538.11:c.5458T>C | ENSP00000230538.7:p.Cys1820Arg | |
| ENST00000389463.8:c.5437T>C | ENSP00000374114.4:p.Cys1813Arg | |
| ENST00000424408.6:c.5437T>C | ENSP00000416470.2:p.Cys1813Arg | |
| ENST00000522006.5:c.5437T>C | ENSP00000429488.1:p.Cys1813Arg | |
| NM_001105206.2:c.5458T>C | NP_001098676.2:p.Cys1820Arg | |
| NM_001105207.2:c.5437T>C | NP_001098677.2:p.Cys1813Arg | |
| NM_002290.4:c.5437T>C | NP_002281.3:p.Cys1813Arg | |
| XM_005266983.3:c.5458T>C | XP_005267040.2:p.Cys1820Arg | |
| XM_005266984.3:c.5458T>C | XP_005267041.2:p.Cys1820Arg | |
| XM_005266983.4:c.5458T>C | XP_005267040.2:p.Cys1820Arg | |
| XM_005266984.4:c.5458T>C | XP_005267041.2:p.Cys1820Arg | |
| XM_017010854.2:c.5437T>C | XP_016866343.1:p.Cys1813Arg | |
| XR_001743406.2:n.5595T>C | ||
| XR_001743407.2:n.5574T>C | ||
| NM_001105206.3:c.5458T>C MANE Select | NP_001098676.2:p.Cys1820Arg | |
| NM_001105207.3:c.5437T>C | NP_001098677.2:p.Cys1813Arg | |
| NM_002290.5:c.5437T>C | NP_002281.3:p.Cys1813Arg |