Linked Data
ClinVar Variation Id:
363848
dbSNP Id:
rs372688369
gnomAD v2:
8-87586661-C-A
gnomAD v3:
8-86574433-C-A
gnomAD v4:
8-86574433-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574433C>A , CM000670.2:g.86574433C>A | GRCh38 |
| NC_000008.10:g.87586661C>A , CM000670.1:g.87586661C>A | GRCh37 |
| NC_000008.9:g.87655777C>A | NCBI36 |
| NG_016980.1:g.174243G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1371G>T MANE Select | ENSP00000316605.5:n.*1371G>T | |
| ENST00000681546.1:n.3621G>T | ||
| ENST00000681746.1:c.*2212G>T | ENSP00000505959.1:n.*2212G>T | |
| ENST00000320005.5:c.*1371G>T | ENSP00000316605.5:n.*1371G>T | |
| ENST00000517327.5:c.276+4256G>T | ENSP00000428329.1:n.276+4256G>T | |
| NM_019098.4:c.*1371G>T | NP_061971.3:n.*1371G>T | |
| XM_011517138.1:c.*1371G>T | XP_011515440.1:n.*1371G>T | |
| XM_011517138.2:c.*1371G>T | XP_011515440.1:n.*1371G>T | |
| NM_019098.5:c.*1371G>T MANE Select | NP_061971.3:n.*1371G>T |