Linked Data
dbSNP Id:
rs781160995
ExAC:
13:48619757 GT / G
gnomAD v2:
13-48619757-GT-G
gnomAD v4:
13-48045621-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045623del , CM000675.2:g.48045623del | GRCh38 |
| NC_000013.10:g.48619759del , CM000675.1:g.48619759del | GRCh37 |
| NC_000013.9:g.47517760del | NCBI36 |
| NG_047021.1:g.13057del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258662.3:c.356-37del MANE Select | ENSP00000258662.1:n.356-37del | |
| ENST00000258662.2:c.356-37del | ENSP00000258662.1:n.356-37del | |
| NM_018283.2:c.356-37del | NP_060753.1:n.356-37del | |
| NM_018283.3:c.356-37del | NP_060753.1:n.356-37del | |
| NR_136687.1:n.536-37del | ||
| NR_136688.1:n.536-37del | ||
| NM_018283.4:c.356-37del MANE Select | NP_060753.1:n.356-37del | |
| NR_136687.2:n.377-37del | ||
| NR_136688.2:n.377-37del |