Linked Data
ClinVar Variation Id:
380313
ClinVar RCV Id:
RCV000440134
dbSNP Id:
rs1057520821
gnomAD v4:
6-3225747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225747G>A , CM000668.2:g.3225747G>A | GRCh38 |
| NC_000006.11:g.3225981G>A , CM000668.1:g.3225981G>A | GRCh37 |
| NC_000006.10:g.3170980G>A | NCBI36 |
| NG_016715.1:g.6988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.342C>T MANE Select | ENSP00000259818.6:p.Asp114= | |
| ENST00000680070.1:n.1272C>T | ||
| ENST00000681707.1:n.1169C>T | ||
| ENST00000681757.1:n.647C>T | ||
| ENST00000259818.7:c.342C>T | ENSP00000259818.6:p.Asp114= | |
| ENST00000473006.1:n.459C>T | ||
| NM_178012.4:c.342C>T | NP_821080.1:p.Asp114= | |
| XM_011514571.1:c.126C>T | XP_011512873.1:p.Asp42= | |
| NM_178012.5:c.342C>T MANE Select | NP_821080.1:p.Asp114= |