Linked Data
ClinVar Variation Id:
363847
dbSNP Id:
rs192543896
gnomAD v2:
8-87586573-G-A
gnomAD v3:
8-86574345-G-A
gnomAD v4:
8-86574345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574345G>A , CM000670.2:g.86574345G>A | GRCh38 |
| NC_000008.10:g.87586573G>A , CM000670.1:g.87586573G>A | GRCh37 |
| NC_000008.9:g.87655689G>A | NCBI36 |
| NG_016980.1:g.174331C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1459C>T MANE Select | ENSP00000316605.5:n.*1459C>T | |
| ENST00000681546.1:n.3709C>T | ||
| ENST00000681746.1:c.*2300C>T | ENSP00000505959.1:n.*2300C>T | |
| ENST00000320005.5:c.*1459C>T | ENSP00000316605.5:n.*1459C>T | |
| ENST00000517327.5:c.276+4344C>T | ENSP00000428329.1:n.276+4344C>T | |
| NM_019098.4:c.*1459C>T | NP_061971.3:n.*1459C>T | |
| XM_011517138.1:c.*1459C>T | XP_011515440.1:n.*1459C>T | |
| XM_011517138.2:c.*1459C>T | XP_011515440.1:n.*1459C>T | |
| NM_019098.5:c.*1459C>T MANE Select | NP_061971.3:n.*1459C>T |