Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83213997G= , CM000668.2:g.83213997G= | GRCh38 |
| NC_000006.11:g.83923716G= , CM000668.1:g.83923716G= | GRCh37 |
| NC_000006.10:g.83980435G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369705.4:c.1549-1903C= MANE Select | ENSP00000358719.3:n.1549-1903C= | |
| ENST00000369705.3:c.1549-1903C= | ENSP00000358719.3:n.1549-1903C= | |
| NM_002395.5:c.1549-1903C= | NP_002386.1:n.1549-1903C= | |
| XM_011535836.1:c.1324-1903C= | XP_011534138.1:n.1324-1903C= | |
| XM_011535836.3:c.1324-1903C= | XP_011534138.1:n.1324-1903C= | |
| NM_002395.6:c.1549-1903C= MANE Select | NP_002386.1:n.1549-1903C= |