Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.98875633T>C , CM000666.2:g.98875633T>C | GRCh38 |
| NC_000004.11:g.99796784T>C , CM000666.1:g.99796784T>C | GRCh37 |
| NC_000004.10:g.100015807T>C | NCBI36 |
| NG_047048.2:g.60003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450253.6:c.*5395A>G | ENSP00000389624.2:n.*5395A>G | |
| NM_001130678.2:c.*5395A>G | NP_001124150.1:n.*5395A>G | |
| NM_001130679.2:c.*5395A>G | NP_001124151.1:n.*5395A>G | |
| NM_001331017.1:c.*5395A>G | NP_001317946.1:n.*5395A>G | |
| NM_001968.4:c.*5395A>G | NP_001959.1:n.*5395A>G | |
| NM_001130678.3:c.*5395A>G | NP_001124150.1:n.*5395A>G |