Linked Data
dbSNP Id:
rs1424411652
gnomAD v3:
19-40285350-C-CCCCCCCCGCCCCCT
gnomAD v4:
19-40285350-C-CCCCCCCCGCCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285357_40285370dup , CM000681.2:g.40285357_40285370dup | GRCh38 |
| NC_000019.9:g.40791264_40791277dup , CM000681.1:g.40791264_40791277dup | GRCh37 |
| NC_000019.8:g.45483104_45483117dup | NCBI36 |
| NG_012038.2:g.4995_5008dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-314_-301dup | ENSP00000375719.4:n.-314_-301dup | |
| ENST00000392038.6:c.-268_-255dup | ENSP00000375892.2:n.-268_-255dup | |
| ENST00000424901.5:c.-268_-255dup | ENSP00000399532.2:n.-268_-255dup | |
| ENST00000578123.5:c.-85+84_-85+97dup | ENSP00000462022.1:n.-85+84_-85+97dup | |
| NM_001243027.2:c.-417_-404dup | NP_001229956.1:n.-417_-404dup | |
| NM_001243028.2:c.-324_-311dup | NP_001229957.1:n.-324_-311dup | |
| NM_001626.5:c.-268_-255dup | NP_001617.1:n.-268_-255dup | |
| XM_011526620.1:c.-85+84_-85+97dup | XP_011524922.1:n.-85+84_-85+97dup |