Linked Data
dbSNP Id:
rs767674591
ExAC:
3:183778021 A / AC
gnomAD v2:
3-183778021-A-AC
gnomAD v4:
3-184060233-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060236dup , CM000665.2:g.184060236dup | GRCh38 |
| NC_000003.11:g.183778024dup , CM000665.1:g.183778024dup | GRCh37 |
| NC_000003.10:g.185260718dup | NCBI36 |
| NG_012749.1:g.12190dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1228dup MANE Select | ENSP00000322617.1:p.Gln410ProfsTer? | |
| ENST00000318351.1:c.1228dup | ENSP00000322617.1:p.Gln410ProfsTer? | |
| NM_130770.2:c.1228dup | NP_570126.2:p.Gln410ProfsTer? | |
| NM_130770.3:c.1228dup MANE Select | NP_570126.2:p.Gln410ProfsTer? |