Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106631G>T , CM000668.2:g.80106631G>T | GRCh38 |
| NC_000006.11:g.80816348G>T , CM000668.1:g.80816348G>T | GRCh37 |
| NC_000006.10:g.80873067G>T | NCBI36 |
| NG_009775.1:g.5005G>T | |
| NG_009775.2:g.5005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.3:c.-63G>T | NP_000047.1:n.-63G>T | |
| NM_183050.2:c.-63G>T | NP_898871.1:n.-63G>T | |
| NM_000056.4:c.-63G>T | NP_000047.1:n.-63G>T | |
| NM_001318975.1:c.-67G>T | NP_001305904.1:n.-67G>T | |
| NM_183050.3:c.-63G>T | NP_898871.1:n.-63G>T | |
| NR_134945.1:n.22G>T |