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