Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231653G= , CM000667.2:g.55231653G= | GRCh38 |
| NC_000005.9:g.54527481G= , CM000667.1:g.54527481G= | GRCh37 |
| NC_000005.8:g.54563238G= | NCBI36 |
| NG_034201.1:g.7065C= | |
| NG_051620.1:g.663C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.775C= MANE Select | ENSP00000282572.4:p.Gln259= | |
| ENST00000282572.4:c.775C= | ENSP00000282572.4:p.Gln259= | |
| ENST00000501463.2:c.*755C= | ENSP00000422485.1:n.*755C= | |
| NM_021147.4:c.775C= | NP_066970.3:p.Gln259= | |
| NR_125346.1:n.1345C= | ||
| NR_125347.1:n.974C= | ||
| NR_125348.1:n.839C= | ||
| NM_021147.5:c.775C= MANE Select | NP_066970.3:p.Gln259= | |
| NR_125346.2:n.1236C= | ||
| NR_125347.2:n.865C= |