Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949717C>A , CM000685.2:g.43949717C>A | GRCh38 |
| NC_000023.10:g.43808963C>A , CM000685.1:g.43808963C>A | GRCh37 |
| NC_000023.9:g.43693907C>A | NCBI36 |
| NG_009832.1:g.28959G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.*82G>T MANE Select | ENSP00000495972.1:n.*82G>T | |
| ENST00000647044.1:c.*82G>T | ENSP00000495811.1:n.*82G>T | |
| ENST00000378062.5:c.*82G>T | ENSP00000367301.5:n.*82G>T | |
| ENST00000470584.1:n.528G>T | ||
| NM_000266.3:c.*82G>T | NP_000257.1:n.*82G>T | |
| NM_000266.4:c.*82G>T MANE Select | NP_000257.1:n.*82G>T |