Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335104T>G , CM000673.2:g.47335104T>G | GRCh38 |
| NC_000011.9:g.47356655T>G , CM000673.1:g.47356655T>G | GRCh37 |
| NC_000011.8:g.47313231T>G | NCBI36 |
| NG_007667.1:g.22599A>C , LRG_386:g.22599A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2843A>C MANE Select | ENSP00000442795.1:p.Asn948Thr | |
| ENST00000256993.8:c.2843A>C | ENSP00000256993.5:p.Asn948Thr | |
| ENST00000399249.6:c.2843A>C | ENSP00000382193.2:p.Asn948Thr | |
| ENST00000545968.5:c.2843A>C | ENSP00000442795.1:p.Asn948Thr | |
| NM_000256.3:c.2843A>C , LRG_386t1:c.2843A>C MANE Select | NP_000247.2:p.Asn948Thr | |
| XM_011520117.1:c.2825A>C | XP_011518419.1:p.Asn942Thr | |
| XM_011520118.1:c.2762A>C | XP_011518420.1:p.Asn921Thr |