Linked Data
dbSNP Id:
rs917888942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92972099G>A , CM000673.2:g.92972099G>A | GRCh38 |
| NC_000011.9:g.92705265G>A , CM000673.1:g.92705265G>A | GRCh37 |
| NC_000011.8:g.92344913G>A | NCBI36 |
| NG_028160.1:g.7477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257068.3:c.223+2151G>A MANE Select | ENSP00000257068.2:n.223+2151G>A | |
| ENST00000257068.2:c.223+2151G>A | ENSP00000257068.2:n.223+2151G>A | |
| ENST00000528076.1:c.165+2151G>A | ||
| ENST00000532482.1:c.224-362G>A | ENSP00000436101.1:n.224-362G>A | |
| NM_005959.3:c.223+2151G>A | NP_005950.1:n.223+2151G>A | |
| XM_011542839.1:c.223+2151G>A | XP_011541141.1:n.223+2151G>A | |
| XM_011542839.2:c.223+2151G>A | XP_011541141.1:n.223+2151G>A | |
| NM_005959.5:c.223+2151G>A MANE Select | NP_005950.1:n.223+2151G>A |