Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160029A>G , CM000682.2:g.44160029A>G | GRCh38 |
| NC_000020.10:g.42788669A>G , CM000682.1:g.42788669A>G | GRCh37 |
| NC_000020.9:g.42222083A>G | NCBI36 |
| NG_031867.1:g.32550T>C , LRG_394:g.32550T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.758T>C MANE Select | ENSP00000362071.3:p.Leu253Pro | |
| ENST00000372980.3:c.758T>C | ENSP00000362071.3:p.Leu253Pro | |
| NM_020433.4:c.758T>C , LRG_394t1:c.758T>C | NP_065166.2:p.Leu253Pro | |
| XM_006723832.2:c.758T>C | XP_006723895.1:p.Leu253Pro | |
| NM_020433.5:c.758T>C MANE Select | NP_065166.2:p.Leu253Pro |