Linked Data
dbSNP Id:
rs1404810521
gnomAD v2:
19-40791271-T-TC
gnomAD v3:
19-40285364-T-TC
gnomAD v4:
19-40285364-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285370dup , CM000681.2:g.40285370dup | GRCh38 |
| NC_000019.9:g.40791277dup , CM000681.1:g.40791277dup | GRCh37 |
| NC_000019.8:g.45483117dup | NCBI36 |
| NG_012038.2:g.4994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-315dup | ENSP00000375719.4:n.-315dup | |
| ENST00000392038.6:c.-269dup | ENSP00000375892.2:n.-269dup | |
| ENST00000424901.5:c.-269dup | ENSP00000399532.2:n.-269dup | |
| ENST00000578123.5:c.-85+83dup | ENSP00000462022.1:n.-85+83dup | |
| NM_001243027.2:c.-418dup | NP_001229956.1:n.-418dup | |
| NM_001243028.2:c.-325dup | NP_001229957.1:n.-325dup | |
| NM_001626.5:c.-269dup | NP_001617.1:n.-269dup | |
| XM_011526620.1:c.-85+83dup | XP_011524922.1:n.-85+83dup |