Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231687C>A , CM000667.2:g.55231687C>A | GRCh38 |
| NC_000005.9:g.54527515C>A , CM000667.1:g.54527515C>A | GRCh37 |
| NC_000005.8:g.54563272C>A | NCBI36 |
| NG_034201.1:g.7031G>T | |
| NG_051620.1:g.629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.741G>T MANE Select | ENSP00000282572.4:p.Ala247= | |
| ENST00000282572.4:c.741G>T | ENSP00000282572.4:p.Ala247= | |
| ENST00000501463.2:c.*721G>T | ENSP00000422485.1:n.*721G>T | |
| NM_021147.4:c.741G>T | NP_066970.3:p.Ala247= | |
| NR_125346.1:n.1311G>T | ||
| NR_125347.1:n.940G>T | ||
| NR_125348.1:n.805G>T | ||
| NM_021147.5:c.741G>T MANE Select | NP_066970.3:p.Ala247= | |
| NR_125346.2:n.1202G>T | ||
| NR_125347.2:n.831G>T |