Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231681C= , CM000667.2:g.55231681C= | GRCh38 |
| NC_000005.9:g.54527509C= , CM000667.1:g.54527509C= | GRCh37 |
| NC_000005.8:g.54563266C= | NCBI36 |
| NG_034201.1:g.7037G= | |
| NG_051620.1:g.635G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.747G= MANE Select | ENSP00000282572.4:p.Gln249= | |
| ENST00000282572.4:c.747G= | ENSP00000282572.4:p.Gln249= | |
| ENST00000501463.2:c.*727G= | ENSP00000422485.1:n.*727G= | |
| NM_021147.4:c.747G= | NP_066970.3:p.Gln249= | |
| NR_125346.1:n.1317G= | ||
| NR_125347.1:n.946G= | ||
| NR_125348.1:n.811G= | ||
| NM_021147.5:c.747G= MANE Select | NP_066970.3:p.Gln249= | |
| NR_125346.2:n.1208G= | ||
| NR_125347.2:n.837G= |