Linked Data
ClinVar Variation Id:
296063
ClinVar RCV Id:
RCV000390829
dbSNP Id:
rs7079
gnomAD v2:
1-230838331-G-T
gnomAD v3:
1-230702585-G-T
gnomAD v4:
1-230702585-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230702585G>T , CM000663.2:g.230702585G>T | GRCh38 |
| NC_000001.10:g.230838331G>T , CM000663.1:g.230838331G>T | GRCh37 |
| NC_000001.9:g.228904954G>T | NCBI36 |
| NG_008836.1:g.17006C>A | |
| NG_008836.2:g.17006C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.*556C>A MANE Select | ENSP00000355627.5:n.*556C>A | |
| ENST00000679738.1:c.*556C>A | ENSP00000505063.1:n.*556C>A | |
| ENST00000679802.1:c.*1446C>A | ENSP00000505184.1:n.*1446C>A | |
| ENST00000679854.1:n.6292C>A | ||
| ENST00000680041.1:c.*556C>A | ENSP00000504866.1:n.*556C>A | |
| ENST00000680783.1:c.829+7410C>A | ENSP00000506329.1:n.829+7410C>A | |
| ENST00000681269.1:c.*556C>A | ENSP00000505985.1:n.*556C>A | |
| ENST00000681347.1:n.4093C>A | ||
| ENST00000681514.1:c.*556C>A | ENSP00000505963.1:n.*556C>A | |
| ENST00000681772.1:c.*1481C>A | ENSP00000505829.1:n.*1481C>A | |
| ENST00000366667.4:c.*556C>A | ENSP00000355627.4:n.*556C>A | |
| NM_000029.3:c.*556C>A | NP_000020.1:n.*556C>A | |
| NM_000029.4:c.*556C>A | NP_000020.1:n.*556C>A | |
| NM_001382817.3:c.*556C>A | NP_001369746.2:n.*556C>A | |
| NM_001384479.1:c.*556C>A MANE Select | NP_001371408.1:n.*556C>A |