Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241519779G>C , CM000663.2:g.241519779G>C | GRCh38 |
| NC_000001.10:g.241683079G>C , CM000663.1:g.241683079G>C | GRCh37 |
| NC_000001.9:g.239749702G>C | NCBI36 |
| NG_012338.1:g.4976C>G , LRG_504:g.4976C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000143.3:c.-57C>G , LRG_504t1:c.-57C>G | NP_000134.2:n.-57C>G |
| ENST00000682567.1:n.21C>G | |
| ENST00000683521.1:c.-57C>G | ENSP00000506864.1:n.-57C>G |
| ENST00000684483.1:c.-57C>G | ENSP00000507894.1:n.-57C>G |