Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78357871C>G , CM000679.2:g.78357871C>G | GRCh38 |
| NC_000017.10:g.76353952C>G , CM000679.1:g.76353952C>G | GRCh37 |
| NC_000017.9:g.73865547C>G | NCBI36 |
| NG_016851.1:g.7207G>C , LRG_619:g.7207G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003955.5:c.*547G>C MANE Select | NP_003946.3:n.*547G>C |
| ENST00000330871.3:c.*547G>C MANE Select | ENSP00000330341.2:n.*547G>C |
| NM_001378932.1:c.*547G>C | NP_001365861.1:n.*547G>C |
| NM_001378933.1:c.*547G>C | NP_001365862.1:n.*547G>C |
| NM_003955.4:c.*547G>C , LRG_619t1:c.*547G>C | NP_003946.3:n.*547G>C |