Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29485808A>C , CM000684.2:g.29485808A>C | GRCh38 |
| NC_000022.10:g.29881797A>C , CM000684.1:g.29881797A>C | GRCh37 |
| NC_000022.9:g.28211797A>C | NCBI36 |
| NG_008404.1:g.10617A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.1169A>C MANE Select | NP_066554.2:p.Asn390Thr |
| ENST00000310624.7:c.1169A>C MANE Select | ENSP00000311997.6:p.Asn390Thr |
| NM_021076.3:c.1169A>C | NP_066554.2:p.Asn390Thr |
| ENST00000310624.6:c.1169A>C | ENSP00000311997.6:p.Asn390Thr |
| XM_011530200.1:c.1169A>C | XP_011528502.1:p.Asn390Thr |
| XM_011530200.2:c.1169A>C | XP_011528502.1:p.Asn390Thr |