Linked Data
dbSNP Id:
rs1423038012
gnomAD v2:
8-19815182-C-CTT
gnomAD v3:
8-19957671-C-CTT
gnomAD v4:
8-19957671-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957674_19957675dup , CM000670.2:g.19957674_19957675dup | GRCh38 |
| NC_000008.10:g.19815185_19815186dup , CM000670.1:g.19815185_19815186dup | GRCh37 |
| NC_000008.9:g.19859465_19859466dup | NCBI36 |
| NG_008855.1:g.23604_23605dup | |
| NG_008855.2:g.60958_60959dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1019-1586_1019-1585dup MANE Select | ENSP00000497642.1:n.1019-1586_1019-1585du... | |
| ENST00000650478.1:c.79+1591_79+1592dup | ENSP00000497560.1:n.79+1591_79+1592dup | |
| ENST00000311322.8:c.1019-1586_1019-1585dup | ENSP00000309757.6:n.1019-1586_1019-1585du... | |
| NM_000237.2:c.1019-1586_1019-1585dup | NP_000228.1:n.1019-1586_1019-1585dup | |
| NM_000237.3:c.1019-1586_1019-1585dup MANE Select | NP_000228.1:n.1019-1586_1019-1585dup |