Linked Data
dbSNP Id:
rs761886976
ExAC:
8:87683127 C / A
gnomAD v2:
8-87683127-C-A
gnomAD v4:
8-86670899-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670899C>A , CM000670.2:g.86670899C>A | GRCh38 |
| NC_000008.10:g.87683127C>A , CM000670.1:g.87683127C>A | GRCh37 |
| NC_000008.9:g.87752243C>A | NCBI36 |
| NG_016980.1:g.77777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+45G>T MANE Select | ENSP00000316605.5:n.493+45G>T | |
| ENST00000680314.1:n.254+45G>T | ||
| ENST00000681746.1:c.493+45G>T | ENSP00000505959.1:n.493+45G>T | |
| ENST00000320005.5:c.493+45G>T | ENSP00000316605.5:n.493+45G>T | |
| NM_019098.4:c.493+45G>T | NP_061971.3:n.493+45G>T | |
| XM_011517138.1:c.79+45G>T | XP_011515440.1:n.79+45G>T | |
| XM_011517138.2:c.79+45G>T | XP_011515440.1:n.79+45G>T | |
| NM_019098.5:c.493+45G>T MANE Select | NP_061971.3:n.493+45G>T |