Linked Data
dbSNP Id:
rs753689752
ExAC:
2:113818409 AC / A
gnomAD v2:
2-113818409-AC-A
gnomAD v4:
2-113060832-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113060836del , CM000664.2:g.113060836del | GRCh38 |
| NC_000002.11:g.113818413del , CM000664.1:g.113818413del | GRCh37 |
| NC_000002.10:g.113534884del | NCBI36 |
| NG_031864.1:g.7199del , LRG_730:g.7199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.30-16del | ENSP00000409262.2:n.30-16del | |
| ENST00000393200.7:c.30-16del MANE Select | ENSP00000376896.2:n.30-16del | |
| ENST00000346807.7:c.30-16del | ENSP00000259212.3:n.30-16del | |
| ENST00000393200.6:c.30-16del | ENSP00000376896.2:n.30-16del | |
| ENST00000437409.1:c.30-16del | ENSP00000409262.1:n.30-16del | |
| NM_012275.2:c.30-16del , LRG_730t2:c.30-16del | NP_036407.1:n.30-16del | |
| NM_173170.1:c.30-16del , LRG_730t1:c.30-16del | NP_775262.1:n.30-16del | |
| NM_012275.3:c.30-16del MANE Select | NP_036407.1:n.30-16del |