Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949624C>T , CM000685.2:g.43949624C>T | GRCh38 |
| NC_000023.10:g.43808870C>T , CM000685.1:g.43808870C>T | GRCh37 |
| NC_000023.9:g.43693814C>T | NCBI36 |
| NG_009832.1:g.29052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*175G>A MANE Select | ENSP00000495972.1:n.*175G>A | |
| ENST00000647044.1:c.*175G>A | ENSP00000495811.1:n.*175G>A | |
| ENST00000378062.5:c.*175G>A | ENSP00000367301.5:n.*175G>A | |
| NM_000266.3:c.*175G>A | NP_000257.1:n.*175G>A | |
| NM_000266.4:c.*175G>A MANE Select | NP_000257.1:n.*175G>A |