Linked Data
dbSNP Id:
rs866061904
gnomAD v2:
20-55826148-C-T
gnomAD v3:
20-57251092-C-T
gnomAD v4:
20-57251092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57251092C>T , CM000682.2:g.57251092C>T | GRCh38 |
| NC_000020.10:g.55826148C>T , CM000682.1:g.55826148C>T | GRCh37 |
| NC_000020.9:g.55259555C>T | NCBI36 |
| NG_032771.1:g.20560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395863.8:c.418+14613G>A MANE Select | ENSP00000379204.3:n.418+14613G>A | |
| ENST00000395863.7:c.418+14613G>A | ENSP00000379204.3:n.418+14613G>A | |
| ENST00000395864.7:c.418+14613G>A | ENSP00000379205.3:n.418+14613G>A | |
| ENST00000433911.1:c.74+14613G>A | ||
| ENST00000450594.6:c.418+14613G>A | ENSP00000398687.2:n.418+14613G>A | |
| NM_001719.2:c.418+14613G>A | NP_001710.1:n.418+14613G>A | |
| NM_001719.3:c.418+14613G>A MANE Select | NP_001710.1:n.418+14613G>A |