Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.[49016626A>G;49016648A>G] , CM000681.2:g.[49016626A>G;49016648A>G] | GRCh38 |
| NC_000019.9:g.[49519883A>G;49519905A>G] , CM000681.1:g.[49519883A>G;49519905A>G] | GRCh37 |
| NC_000019.8:g.[54211695A>G;54211717A>G] | NCBI36 |
| NG_011464.1:g.[5443T>C;5465T>C] | |
| NG_033041.1:g.[27728A>G;27750A>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.[82T>C;104T>C] MANE Select | ENSP00000497294.2:p.[Trp28Arg;Ile35Thr] | |
| ENST00000649284.1:n.[173T>C;195T>C] | ||
| ENST00000221421.6:c.[82T>C;104T>C] | ENSP00000221421.1:p.[Trp28Arg;Ile35Thr] | |
| ENST00000391869.4:c.[76T>C;98T>C] | ENSP00000375742.4:p.[Trp26Arg;Ile33Thr] | |
| NM_000894.2:c.[82T>C;104T>C] | NP_000885.1:p.[Trp28Arg;Ile35Thr] | |
| XM_011526975.1:c.[130T>C;152T>C] | XP_011525277.1:p.[Trp44Arg;Ile51Thr] | |
| NM_000894.3:c.[82T>C;104T>C] MANE Select | NP_000885.1:p.[Trp28Arg;Ile35Thr] |