Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23189642G>C , CM000678.2:g.23189642G>C | GRCh38 |
| NC_000016.9:g.23200963G>C , CM000678.1:g.23200963G>C | GRCh37 |
| NC_000016.8:g.23108464G>C | NCBI36 |
| NG_011909.1:g.11924G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039.4:c.589G>C MANE Select | NP_001030.2:p.Glu197Gln |
| ENST00000300061.3:c.589G>C MANE Select | ENSP00000300061.2:p.Glu197Gln |
| NM_001039.3:c.589G>C | NP_001030.2:p.Glu197Gln |
| ENST00000300061.2:c.589G>C | ENSP00000300061.2:p.Glu197Gln |