Linked Data
dbSNP Id:
rs1455631594
gnomAD v2:
1-116280794-GT-G
gnomAD v3:
1-115738173-GT-G
gnomAD v4:
1-115738173-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738176del , CM000663.2:g.115738176del | GRCh38 |
| NC_000001.10:g.116280797del , CM000663.1:g.116280797del | GRCh37 |
| NC_000001.9:g.116082320del | NCBI36 |
| NG_008802.1:g.35632del , LRG_404:g.35632del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.256+50del | ENSP00000518226.1:n.256+50del | |
| ENST00000261448.6:c.532+50del MANE Select | ENSP00000261448.5:n.532+50del | |
| ENST00000261448.5:c.532+50del | ENSP00000261448.5:n.532+50del | |
| NM_001232.3:c.532+50del , LRG_404t1:c.532+50del | NP_001223.2:n.532+50del | |
| NM_001232.4:c.532+50del MANE Select | NP_001223.2:n.532+50del |