Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94410489G>C , CM000669.2:g.94410489G>C | GRCh38 |
| NC_000007.13:g.94039801G>C , CM000669.1:g.94039801G>C | GRCh37 |
| NC_000007.12:g.93877737G>C | NCBI36 |
| NG_007405.1:g.20929G>C , LRG_2:g.20929G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1159G>C MANE Select | NP_000080.2:p.Ala387Pro |
| ENST00000297268.11:c.1159G>C MANE Select | ENSP00000297268.6:p.Ala387Pro |
| NM_000089.3:c.1159G>C , LRG_2t1:c.1159G>C | NP_000080.2:p.Ala387Pro |
| ENST00000297268.10:c.1159G>C | ENSP00000297268.6:p.Ala387Pro |
| ENST00000620463.1:c.1153G>C | ENSP00000477719.1:p.Ala385Pro |