Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375282T>C , CM000665.2:g.191375282T>C | GRCh38 |
| NC_000003.11:g.191093071T>C , CM000665.1:g.191093071T>C | GRCh37 |
| NC_000003.10:g.192575765T>C | NCBI36 |
| NG_008994.1:g.51198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.669T>C MANE Select | ENSP00000376249.4:p.His223= | |
| ENST00000392456.4:c.449-4877T>C | ENSP00000376250.4:n.449-4877T>C | |
| ENST00000392455.7:c.449-4877T>C | ENSP00000376249.3:n.449-4877T>C | |
| ENST00000392456.3:c.669T>C | ENSP00000376250.3:p.His223= | |
| NM_174908.3:c.449-4877T>C | NP_777568.1:n.449-4877T>C | |
| NM_178335.2:c.669T>C | NP_848018.1:p.His223= | |
| XM_011512460.1:c.669T>C | XP_011510762.1:p.His223= | |
| NM_178335.3:c.669T>C MANE Select | NP_848018.1:p.His223= | |
| NM_174908.4:c.449-4877T>C | NP_777568.1:n.449-4877T>C |