Linked Data
dbSNP Id:
rs764372517
ExAC:
13:48619787 C / A
gnomAD v2:
13-48619787-C-A
gnomAD v3:
13-48045651-C-A
gnomAD v4:
13-48045651-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045651C>A , CM000675.2:g.48045651C>A | GRCh38 |
| NC_000013.10:g.48619787C>A , CM000675.1:g.48619787C>A | GRCh37 |
| NC_000013.9:g.47517788C>A | NCBI36 |
| NG_047021.1:g.13085C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258662.3:c.356-9C>A MANE Select | ENSP00000258662.1:n.356-9C>A | |
| ENST00000258662.2:c.356-9C>A | ENSP00000258662.1:n.356-9C>A | |
| NM_018283.2:c.356-9C>A | NP_060753.1:n.356-9C>A | |
| NM_018283.3:c.356-9C>A | NP_060753.1:n.356-9C>A | |
| NR_136687.1:n.536-9C>A | ||
| NR_136688.1:n.536-9C>A | ||
| NM_018283.4:c.356-9C>A MANE Select | NP_060753.1:n.356-9C>A | |
| NR_136687.2:n.377-9C>A | ||
| NR_136688.2:n.377-9C>A |