Linked Data
dbSNP Id:
rs1022540923
gnomAD v2:
6-31687005-C-CT
gnomAD v3:
6-31719228-C-CT
gnomAD v4:
6-31719228-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31719230dup , CM000668.2:g.31719230dup | GRCh38 |
| NC_000006.11:g.31687007dup , CM000668.1:g.31687007dup | GRCh37 |
| NC_000006.10:g.31794986dup | NCBI36 |
| NG_029044.1:g.887dup | |
| NG_029044.2:g.887dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375819.3:c.245dup (LY6G6C) MANE Select | ENSP00000364978.2:p.Leu83AlafsTer6 | |
| ENST00000375819.2:c.245dup (LY6G6C) | ENSP00000364978.2:p.Leu83AlafsTer6 | |
| ENST00000460663.5:n.90+547dup (MPIG6B) | ||
| ENST00000495859.1:c.77dup (LY6G6C) | ENSP00000433207.1:p.Leu27AlafsTer6 | |
| NM_025261.2:c.245dup (LY6G6C) | NP_079537.1:p.Leu83AlafsTer6 | |
| NM_025261.3:c.245dup (LY6G6C) MANE Select | NP_079537.1:p.Leu83AlafsTer6 |