Linked Data
dbSNP Id:
rs559623854
gnomAD v2:
8-87682961-C-A
gnomAD v3:
8-86670733-C-A
gnomAD v4:
8-86670733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670733C>A , CM000670.2:g.86670733C>A | GRCh38 |
| NC_000008.10:g.87682961C>A , CM000670.1:g.87682961C>A | GRCh37 |
| NC_000008.9:g.87752077C>A | NCBI36 |
| NG_016980.1:g.77943G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+211G>T MANE Select | ENSP00000316605.5:n.493+211G>T | |
| ENST00000680314.1:n.254+211G>T | ||
| ENST00000681746.1:c.493+211G>T | ENSP00000505959.1:n.493+211G>T | |
| ENST00000320005.5:c.493+211G>T | ENSP00000316605.5:n.493+211G>T | |
| NM_019098.4:c.493+211G>T | NP_061971.3:n.493+211G>T | |
| XM_011517138.1:c.79+211G>T | XP_011515440.1:n.79+211G>T | |
| XM_011517138.2:c.79+211G>T | XP_011515440.1:n.79+211G>T | |
| NM_019098.5:c.493+211G>T MANE Select | NP_061971.3:n.493+211G>T |