Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1801575A>C , CM000667.2:g.1801575A>C | GRCh38 |
| NC_000005.9:g.1801689A>C , CM000667.1:g.1801689A>C | GRCh37 |
| NC_000005.8:g.1854689A>C | NCBI36 |
| NG_013354.1:g.5194A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004553.6:c.132+26A>C MANE Select | NP_004544.1:n.132+26A>C |
| ENST00000274137.10:c.132+26A>C MANE Select | ENSP00000274137.6:n.132+26A>C |
| NM_004553.4:c.132+26A>C | NP_004544.1:n.132+26A>C |
| ENST00000274137.9:c.132+26A>C | ENSP00000274137.5:n.132+26A>C |
| ENST00000469176.1:c.132+26A>C | ENSP00000422557.1:n.132+26A>C |
| ENST00000510329.1:n.129+26A>C |