Linked Data
dbSNP Id:
rs1391435316
gnomAD v2:
9-117558641-T-TC
gnomAD v3:
9-114796361-T-TC
gnomAD v4:
9-114796361-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114796362dup , CM000671.2:g.114796362dup | GRCh38 |
| NC_000009.11:g.117558642dup , CM000671.1:g.117558642dup | GRCh37 |
| NC_000009.10:g.116598463dup | NCBI36 |
| NG_011488.2:g.14767dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374045.5:c.211-2794dup MANE Select | ENSP00000363157.3:n.211-2794dup | |
| ENST00000374045.4:c.211-2794dup | ENSP00000363157.3:n.211-2794dup | |
| NM_005118.3:c.211-2794dup | NP_005109.2:n.211-2794dup | |
| NM_005118.4:c.211-2794dup MANE Select | NP_005109.2:n.211-2794dup |