Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6696039T>C , CM000666.2:g.6696039T>C | GRCh38 |
| NC_000004.11:g.6697766T>C , CM000666.1:g.6697766T>C | GRCh37 |
| NC_000004.10:g.6748667T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005980.3:c.139-854T>C MANE Select | NP_005971.1:n.139-854T>C |
| ENST00000296370.4:c.139-854T>C MANE Select | ENSP00000296370.3:n.139-854T>C |
| NM_005980.2:c.139-854T>C | NP_005971.1:n.139-854T>C |
| ENST00000296370.3:c.139-854T>C | ENSP00000296370.3:n.139-854T>C |
| ENST00000513778.1:n.36-854T>C |