Linked Data
ClinVar Variation Id:
357659
ClinVar RCV Id:
RCV000283114
dbSNP Id:
rs886061658
gnomAD v4:
6-6145202-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145202C>A , CM000668.2:g.6145202C>A | GRCh38 |
| NC_000006.11:g.6145435C>A , CM000668.1:g.6145435C>A | GRCh37 |
| NC_000006.10:g.6090434C>A | NCBI36 |
| NG_008107.1:g.180490G>T , LRG_549:g.180490G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.*417G>T MANE Select | ENSP00000264870.3:n.*417G>T | |
| ENST00000264870.7:c.*417G>T | ENSP00000264870.3:n.*417G>T | |
| NM_000129.3:c.*417G>T , LRG_549t1:c.*417G>T | NP_000120.2:n.*417G>T | |
| XM_006715010.2:c.*417G>T | XP_006715073.1:n.*417G>T | |
| XM_011514342.1:c.*417G>T | XP_011512644.1:n.*417G>T | |
| NM_000129.4:c.*417G>T MANE Select | NP_000120.2:n.*417G>T |