Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10284116G>C , CM000681.2:g.10284116G>C | GRCh38 |
| NC_000019.9:g.10394792G>C , CM000681.1:g.10394792G>C | GRCh37 |
| NC_000019.8:g.10255792G>C | NCBI36 |
| NG_007728.1:g.2143G>C | |
| NG_012083.1:g.18276G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000201.3:c.721G>C MANE Select | NP_000192.2:p.Gly241Arg |
| ENST00000264832.8:c.721G>C MANE Select | ENSP00000264832.2:p.Gly241Arg |
| NM_000201.2:c.721G>C | NP_000192.2:p.Gly241Arg |
| ENST00000264832.7:c.721G>C | ENSP00000264832.2:p.Gly241Arg |
| ENST00000423829.2:c.68-13G>C | ENSP00000413124.2:n.68-13G>C |