Linked Data
ClinVar Variation Id:
381182
dbSNP Id:
rs35602605
ExAC:
15:40308859 G / T
gnomAD v2:
15-40308859-G-T
gnomAD v3:
15-40016658-G-T
gnomAD v4:
15-40016658-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40016658G>T , CM000677.2:g.40016658G>T | GRCh38 |
| NC_000015.9:g.40308859G>T , CM000677.1:g.40308859G>T | GRCh37 |
| NC_000015.8:g.38096151G>T | NCBI36 |
| NG_034053.1:g.87535G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3916G>T MANE Select | ENSP00000263791.5:p.Gly1306Cys | |
| ENST00000263791.9:c.3916G>T | ENSP00000263791.5:p.Gly1306Cys | |
| ENST00000558557.1:n.923-450G>T | ||
| ENST00000558629.5:n.2833G>T | ||
| ENST00000560855.5:c.3248G>T | ||
| NM_001013703.3:c.3916G>T | NP_001013725.2:p.Gly1306Cys | |
| XM_005254392.1:c.3916G>T | XP_005254449.1:p.Gly1306Cys | |
| XM_011521599.1:c.3916G>T | XP_011519901.1:p.Gly1306Cys | |
| XM_011521600.1:c.3760-450G>T | XP_011519902.1:n.3760-450G>T | |
| XM_005254392.3:c.3916G>T | XP_005254449.1:p.Gly1306Cys | |
| XM_011521599.2:c.3916G>T | XP_011519901.1:p.Gly1306Cys | |
| XM_011521600.3:c.3760-450G>T | XP_011519902.1:n.3760-450G>T | |
| XM_017022219.2:c.3760-450G>T | XP_016877708.1:n.3760-450G>T | |
| NM_001013703.4:c.3916G>T MANE Select | NP_001013725.2:p.Gly1306Cys |