Linked Data
ClinVar Variation Id:
1293454
ClinVar RCV Id:
RCV001717610
dbSNP Id:
rs67463707
gnomAD v2:
8-87644924-C-T
gnomAD v3:
8-86632696-C-T
gnomAD v4:
8-86632696-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632696C>T , CM000670.2:g.86632696C>T | GRCh38 |
| NC_000008.10:g.87644924C>T , CM000670.1:g.87644924C>T | GRCh37 |
| NC_000008.9:g.87714040C>T | NCBI36 |
| NG_016980.1:g.115980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1320+56G>A MANE Select | ENSP00000316605.5:n.1320+56G>A | |
| ENST00000681546.1:n.1140+56G>A | ||
| ENST00000681746.1:c.1320+56G>A | ENSP00000505959.1:n.1320+56G>A | |
| ENST00000320005.5:c.1320+56G>A | ENSP00000316605.5:n.1320+56G>A | |
| NM_019098.4:c.1320+56G>A | NP_061971.3:n.1320+56G>A | |
| XM_011517138.1:c.906+56G>A | XP_011515440.1:n.906+56G>A | |
| XM_011517138.2:c.906+56G>A | XP_011515440.1:n.906+56G>A | |
| NM_019098.5:c.1320+56G>A MANE Select | NP_061971.3:n.1320+56G>A |