Linked Data
dbSNP Id:
rs1466876570
gnomAD v2:
6-31603019-T-TC
gnomAD v3:
6-31635242-T-TC
gnomAD v4:
6-31635242-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635247dup , CM000668.2:g.31635247dup | GRCh38 |
| NC_000006.11:g.31603024dup , CM000668.1:g.31603024dup | GRCh37 |
| NC_000006.10:g.31711003dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5276dup MANE Select | ENSP00000365201.2:p.Val1760SerfsTer6 | |
| ENST00000376007.8:c.5276dup | ENSP00000365175.4:p.Val1760SerfsTer6 | |
| ENST00000376033.2:c.5276dup | ENSP00000365201.2:p.Val1760SerfsTer6 | |
| ENST00000469501.1:n.6dup | ||
| ENST00000484787.1:n.687dup | ||
| NM_004638.3:c.5276dup | NP_004629.3:p.Val1760SerfsTer6 | |
| NM_080686.2:c.5276dup | NP_542417.2:p.Val1760SerfsTer6 | |
| XM_011514890.1:c.5276dup | XP_011513192.1:p.Val1760SerfsTer6 | |
| XM_017011274.1:c.5276dup | XP_016866763.1:p.Val1760SerfsTer6 | |
| NM_004638.4:c.5276dup MANE Select | NP_004629.3:p.Val1760SerfsTer6 | |
| NM_080686.3:c.5276dup | NP_542417.2:p.Val1760SerfsTer6 |