Linked Data
dbSNP Id:
rs768765251
gnomAD v2:
8-22320724-G-T
gnomAD v3:
8-22463211-G-T
gnomAD v4:
8-22463211-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22463211G>T , CM000670.2:g.22463211G>T | GRCh38 |
| NC_000008.10:g.22320724G>T , CM000670.1:g.22320724G>T | GRCh37 |
| NC_000008.9:g.22376669G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000240139.10:c.50-11743G>T MANE Select | ENSP00000240139.5:n.50-11743G>T | |
| ENST00000240139.9:c.50-11743G>T | ENSP00000240139.5:n.50-11743G>T | |
| ENST00000289963.12:c.50-11743G>T | ENSP00000289963.8:n.50-11743G>T | |
| ENST00000397775.7:c.50-11743G>T | ENSP00000380878.3:n.50-11743G>T | |
| ENST00000518852.5:c.50-11743G>T | ENSP00000429379.1:n.50-11743G>T | |
| ENST00000522000.1:c.95-11743G>T | ENSP00000428358.1:n.95-11743G>T | |
| NM_001243974.1:c.50-11743G>T | NP_001230903.1:n.50-11743G>T | |
| NM_001243975.1:c.50-11743G>T | NP_001230904.1:n.50-11743G>T | |
| NM_005605.4:c.50-11743G>T | NP_005596.2:n.50-11743G>T | |
| XM_005273564.1:c.50-11743G>T | XP_005273621.1:n.50-11743G>T | |
| XR_949434.1:n.490-11743G>T | ||
| XR_949436.1:n.490-11743G>T | ||
| XM_017013611.2:c.50-11743G>T | XP_016869100.1:n.50-11743G>T | |
| XR_001745553.2:n.407-11743G>T | ||
| XR_001745554.2:n.407-11743G>T | ||
| XR_001745555.2:n.407-11743G>T | ||
| XR_001745556.2:n.407-11743G>T | ||
| XR_001745557.2:n.407-11743G>T | ||
| XR_001745558.2:n.407-11743G>T | ||
| XR_001745559.2:n.407-11743G>T | ||
| NM_001243974.2:c.50-11743G>T | NP_001230903.1:n.50-11743G>T | |
| NM_001243975.2:c.50-11743G>T | NP_001230904.1:n.50-11743G>T | |
| NM_005605.5:c.50-11743G>T MANE Select | NP_005596.2:n.50-11743G>T |