Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56981179G>C , CM000678.2:g.56981179G>C | GRCh38 |
| NC_000016.9:g.57015091G>C , CM000678.1:g.57015091G>C | GRCh37 |
| NC_000016.8:g.55572592G>C | NCBI36 |
| NG_008952.1:g.24257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1168G>C MANE Select | ENSP00000200676.3:p.Ala390Pro | |
| ENST00000650358.1:n.1566G>C | ||
| ENST00000200676.7:c.1168G>C | ENSP00000200676.3:p.Ala390Pro | |
| ENST00000379780.6:c.988G>C | ENSP00000369106.2:p.Ala330Pro | |
| ENST00000566128.1:c.973G>C | ENSP00000456276.1:p.Ala325Pro | |
| NM_000078.2:c.1168G>C | NP_000069.2:p.Ala390Pro | |
| NM_001286085.1:c.988G>C | NP_001273014.1:p.Ala330Pro | |
| NM_000078.3:c.1168G>C MANE Select | NP_000069.2:p.Ala390Pro | |
| NM_001286085.2:c.988G>C | NP_001273014.1:p.Ala330Pro |