Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750946C= , CM000684.2:g.27750946C= | GRCh38 |
| NC_000022.10:g.28146934C= , CM000684.1:g.28146934C= | GRCh37 |
| NC_000022.9:g.26476934C= | NCBI36 |
| NG_023258.1:g.55553G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.457G= | ||
| ENST00000302326.5:c.3932G= MANE Select | ENSP00000304956.4:p.Arg1311= | |
| ENST00000302326.4:c.3932G= | ENSP00000304956.4:p.Arg1311= | |
| ENST00000424656.1:c.285G= | ||
| ENST00000497225.1:n.288G= | ||
| NM_002430.2:c.3932G= | NP_002421.3:p.Arg1311= | |
| NM_002430.3:c.3932G= MANE Select | NP_002421.3:p.Arg1311= |