Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87472721T>C , CM000668.2:g.87472721T>C | GRCh38 |
| NC_000006.11:g.88182439T>C , CM000668.1:g.88182439T>C | GRCh37 |
| NC_000006.10:g.88239158T>C | NCBI36 |
| NG_016207.1:g.4797T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464978.5:n.91+2008T>C | |
| ENST00000506888.5:n.556-4641T>C | |
| ENST00000507897.5:c.*61-4641T>C | ENSP00000426769.1:n.*61-4641T>C |
| ENST00000513191.1:n.510-4641T>C |