Linked Data
dbSNP Id:
rs769762032
ExAC:
6:32810899 G / GA
gnomAD v2:
6-32810899-G-GA
gnomAD v3:
6-32843122-G-GA
gnomAD v4:
6-32843122-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843127dup , CM000668.2:g.32843127dup | GRCh38 |
| NC_000006.11:g.32810904dup , CM000668.1:g.32810904dup | GRCh37 |
| NC_000006.10:g.32918882dup | NCBI36 |
| NG_009793.3:g.648dup | |
| NG_028165.1:g.6813dup | |
| NG_009793.4:g.648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.169-34dup | ||
| ENST00000697612.1:n.813dup | ||
| ENST00000374881.3:c.136-34dup | ENSP00000364015.2:n.136-34dup | |
| ENST00000374882.8:c.148-34dup MANE Select | ENSP00000364016.4:n.148-34dup | |
| ENST00000650411.1:n.1435dup | ||
| ENST00000650793.1:n.169-34dup | ||
| ENST00000374881.2:c.136-34dup | ENSP00000364015.2:n.136-34dup | |
| ENST00000374882.7:c.148-34dup | ENSP00000364016.3:n.148-34dup | |
| ENST00000395339.7:c.148-34dup | ENSP00000378748.3:n.148-34dup | |
| ENST00000484003.1:n.374-34dup | ||
| NM_004159.4:c.136-34dup | NP_004150.1:n.136-34dup | |
| NM_148919.3:c.148-34dup | NP_683720.2:n.148-34dup | |
| NM_148919.4:c.148-34dup MANE Select | NP_683720.2:n.148-34dup | |
| NM_004159.5:c.136-34dup | NP_004150.1:n.136-34dup |