Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523553G>A , CM000685.2:g.48523553G>A | GRCh38 |
| NC_000023.10:g.48381941G>A , CM000685.1:g.48381941G>A | GRCh37 |
| NC_000023.9:g.48266885G>A | NCBI36 |
| NG_007452.1:g.6778G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006579.3:c.-73-146G>A MANE Select | NP_006570.1:n.-73-146G>A |
| ENST00000495186.6:c.-73-146G>A MANE Select | ENSP00000417052.1:n.-73-146G>A |
| NM_006579.2:c.-73-146G>A | NP_006570.1:n.-73-146G>A |
| ENST00000276096.10:n.110-370G>A | |
| ENST00000414061.1:c.-73-146G>A | ENSP00000405832.1:n.-73-146G>A |
| ENST00000446158.5:c.-73-146G>A | ENSP00000390031.1:n.-73-146G>A |
| ENST00000495186.5:c.-73-146G>A | ENSP00000417052.1:n.-73-146G>A |
| ENST00000498425.1:n.104-201G>A | |
| ENST00000651615.1:c.-73-146G>A | ENSP00000498524.1:n.-73-146G>A |