Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79947369C>G , CM000668.2:g.79947369C>G | GRCh38 |
| NC_000006.11:g.80657086C>G , CM000668.1:g.80657086C>G | GRCh37 |
| NC_000006.10:g.80713805C>G | NCBI36 |
| NG_009108.1:g.5230G>C | |
| NG_009108.2:g.5230G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.-90G>C MANE Select | NP_073563.1:n.-90G>C |
| ENST00000369816.5:c.-90G>C MANE Select | ENSP00000358831.4:n.-90G>C |
| NM_022726.3:c.-90G>C | NP_073563.1:n.-90G>C |
| ENST00000369816.4:c.-90G>C | ENSP00000358831.4:n.-90G>C |