Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141137653G>C , CM000667.2:g.141137653G>C | GRCh38 |
| NC_000005.9:g.140517235G>C , CM000667.1:g.140517235G>C | GRCh37 |
| NC_000005.8:g.140497419G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015669.5:c.2219G>C MANE Select | NP_056484.2:p.Gly740Ala |
| ENST00000231134.8:c.2219G>C MANE Select | ENSP00000231134.5:p.Gly740Ala |
| NM_015669.4:c.2219G>C | NP_056484.2:p.Gly740Ala |
| ENST00000231134.7:c.2219G>C | ENSP00000231134.5:p.Gly740Ala |