Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53564474A= , CM000668.2:g.53564474A= | GRCh38 |
| NC_000006.11:g.53429272A= , CM000668.1:g.53429272A= | GRCh37 |
| NC_000006.10:g.53537231A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505197.1:c.-313-54T= (GCLC) | ENSP00000427403.1:n.-313-54T= | |
| NR_110840.1:n.400-54T= (KILH) |