Linked Data
dbSNP Id:
rs2307981
gnomAD v2:
3-12064428-G-GCAA
gnomAD v3:
3-12022928-G-GCAA
gnomAD v4:
3-12022928-G-GCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12022931_12022933dup , CM000665.2:g.12022931_12022933dup | GRCh38 |
| NC_000003.11:g.12064431_12064433dup , CM000665.1:g.12064431_12064433dup | GRCh37 |
| NC_000003.10:g.12039431_12039433dup | NCBI36 |
| NG_011728.2:g.23544_23546dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000621198.5:c.377+18003_377+18005dup MANE Select | ENSP00000480050.1:n.377+18003_377+18005du... | |
| ENST00000620175.4:c.377+18003_377+18005dup | ENSP00000484916.1:n.377+18003_377+18005du... | |
| ENST00000621198.4:c.377+18003_377+18005dup | ENSP00000480050.1:n.377+18003_377+18005du... | |
| NM_003178.5:c.377+18003_377+18005dup | NP_003169.2:n.377+18003_377+18005dup | |
| NM_133625.4:c.377+18003_377+18005dup | NP_598328.1:n.377+18003_377+18005dup | |
| XM_006713311.2:c.377+18003_377+18005dup | XP_006713374.1:n.377+18003_377+18005dup | |
| XM_006713311.3:c.377+18003_377+18005dup | XP_006713374.1:n.377+18003_377+18005dup | |
| XR_001740240.1:n.563+18003_563+18005dup | ||
| NM_133625.5:c.377+18003_377+18005dup | NP_598328.1:n.377+18003_377+18005dup | |
| NM_133625.6:c.377+18003_377+18005dup MANE Select | NP_598328.1:n.377+18003_377+18005dup | |
| NM_003178.6:c.377+18003_377+18005dup | NP_003169.2:n.377+18003_377+18005dup |