Linked Data
ClinVar Variation Id:
127044
ClinVar RCV Id:
RCV000114910
dbSNP Id:
rs104895057
gnomAD v2:
12-1022104-G-A
gnomAD v3:
12-912938-G-A
gnomAD v4:
12-912938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.912938G>A , CM000674.2:g.912938G>A | GRCh38 |
| NC_000012.11:g.1022104G>A , CM000674.1:g.1022104G>A | GRCh37 |
| NC_000012.10:g.892365G>A | NCBI36 |
| NG_007984.2:g.164880G>A | |
| NG_017078.1:g.41760C>T | |
| NG_007984.3:g.164880G>A | |
| NG_017078.2:g.82104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358495.8:c.*453C>T MANE Select | ENSP00000351284.3:n.*453C>T | |
| ENST00000228345.9:n.2043C>T | ||
| ENST00000358495.7:c.*453C>T | ENSP00000351284.3:n.*453C>T | |
| ENST00000430095.6:c.*453C>T | ENSP00000387901.2:n.*453C>T | |
| ENST00000468231.5:c.*1496C>T | ENSP00000434703.1:n.*1496C>T | |
| ENST00000481052.5:n.2021C>T | ||
| ENST00000488642.6:n.2233C>T | ||
| NM_001297419.1:c.*453C>T | NP_001284348.1:n.*453C>T | |
| NM_001297421.1:c.*453C>T | NP_001284350.1:n.*453C>T | |
| NM_134424.3:c.*453C>T | NP_602296.2:n.*453C>T | |
| NR_123713.1:n.2131C>T | ||
| XM_005253720.3:c.*453C>T | XP_005253777.1:n.*453C>T | |
| XM_005253721.2:c.*453C>T | XP_005253778.1:n.*453C>T | |
| XM_011520990.1:c.*453C>T | XP_011519292.1:n.*453C>T | |
| XM_011520991.1:c.*453C>T | XP_011519293.1:n.*453C>T | |
| XM_011520992.1:c.*453C>T | XP_011519294.1:n.*453C>T | |
| XM_011520995.1:c.*453C>T | XP_011519297.1:n.*453C>T | |
| XR_931521.1:n.1797C>T | ||
| XR_931522.1:n.1872C>T | ||
| XM_005253720.5:c.*453C>T | XP_005253777.1:n.*453C>T | |
| XM_011520990.2:c.*453C>T | XP_011519292.1:n.*453C>T | |
| XM_011520991.2:c.*453C>T | XP_011519293.1:n.*453C>T | |
| XM_011520995.3:c.*453C>T | XP_011519297.1:n.*453C>T | |
| XM_017019769.1:c.*453C>T | XP_016875258.1:n.*453C>T | |
| XM_017019770.1:c.*453C>T | XP_016875259.1:n.*453C>T | |
| XR_001748836.1:n.1852C>T | ||
| XR_001748837.1:n.1849C>T | ||
| XR_001748838.2:n.1951C>T | ||
| XR_001748839.1:n.1849C>T | ||
| XR_931522.2:n.1872C>T | ||
| NM_134424.4:c.*453C>T MANE Select | NP_602296.2:n.*453C>T | |
| NM_001297421.2:c.*453C>T | NP_001284350.1:n.*453C>T | |
| NR_123713.2:n.2103C>T |