Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75473444G>A , CM000678.2:g.75473444G>A | GRCh38 |
| NC_000016.9:g.75507342G>A , CM000678.1:g.75507342G>A | GRCh37 |
| NC_000016.8:g.74064843G>A | NCBI36 |
| NG_016442.1:g.26585C>T | |
| NG_016442.2:g.26998C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021615.5:c.*5197C>T MANE Select | NP_067628.1:n.*5197C>T |
| ENST00000332272.9:c.*5197C>T MANE Select | ENSP00000328983.4:n.*5197C>T |
| NM_021615.4:c.*5197C>T | NP_067628.1:n.*5197C>T |
| NR_163480.1:n.757C>T | |
| NR_163481.1:n.601C>T | |
| ENST00000332272.8:c.*5197C>T | ENSP00000328983.4:n.*5197C>T |
| ENST00000649341.1:c.*132C>T | ENSP00000497635.1:n.*132C>T |
| ENST00000649824.1:c.*622C>T | ENSP00000496806.1:n.*622C>T |