Linked Data
dbSNP Id:
rs201629107
ExAC:
6:31236803 T / TG
gnomAD v2:
6-31236803-T-TG
gnomAD v3:
6-31269026-T-TG
gnomAD v4:
6-31269026-T-TG
COSMIC:
COSN15666169
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269027dup , CM000668.2:g.31269027dup | GRCh38 |
| NC_000006.11:g.31236804dup , CM000668.1:g.31236804dup | GRCh37 |
| NC_000006.10:g.31344783dup | NCBI36 |
| NG_029422.2:g.8105dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*142dup MANE Select | ENSP00000365402.5:n.*142dup | |
| ENST00000376228.9:c.*142dup | ENSP00000365402.5:n.*142dup | |
| ENST00000376237.8:c.*830dup | ENSP00000365412.4:n.*830dup | |
| ENST00000383329.7:c.*142dup | ENSP00000372819.3:n.*142dup | |
| ENST00000466892.5:n.476dup | ||
| ENST00000470363.5:n.1001dup | ||
| ENST00000487245.5:n.1602dup | ||
| NM_002117.5:c.*142dup | NP_002108.4:n.*142dup | |
| NM_002117.6:c.*142dup MANE Select | NP_002108.4:n.*142dup |