Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6779333A>C , CM000682.2:g.6779333A>C | GRCh38 |
| NC_000020.10:g.6759980A>C , CM000682.1:g.6759980A>C | GRCh37 |
| NC_000020.9:g.6707980A>C | NCBI36 |
| NG_023233.1:g.16236A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001200.4:c.*244A>C MANE Select | NP_001191.1:n.*244A>C |
| ENST00000378827.5:c.*244A>C MANE Select | ENSP00000368104.3:n.*244A>C |
| NM_001200.2:c.*244A>C | NP_001191.1:n.*244A>C |
| NM_001200.3:c.*244A>C | NP_001191.1:n.*244A>C |
| ENST00000378827.4:c.*244A>C | ENSP00000368104.3:n.*244A>C |
| XM_011529323.1:c.*244A>C | XP_011527625.1:n.*244A>C |