Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685014T>G , CM000667.2:g.74685014T>G | GRCh38 |
| NC_000005.9:g.73980839T>G , CM000667.1:g.73980839T>G | GRCh37 |
| NC_000005.8:g.74016595T>G | NCBI36 |
| NG_009770.1:g.4871T>G | |
| NG_009770.2:g.49992T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001292004.1:c.-376-4314T>G | NP_001278933.1:n.-376-4314T>G |
| NM_001292004.2:c.-376-4314T>G | NP_001278933.1:n.-376-4314T>G |
| ENST00000511181.5:c.-376-4314T>G | ENSP00000426285.1:n.-376-4314T>G |
| XR_948481.1:n.84A>C |