Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46131957T>C , CM000683.2:g.46131957T>C | GRCh38 |
| NC_000021.8:g.47551871T>C , CM000683.1:g.47551871T>C | GRCh37 |
| NC_000021.7:g.46376299T>C | NCBI36 |
| NG_008675.1:g.38839T>C , LRG_476:g.38839T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2465T>C MANE Select | NP_001840.3:p.Leu822Pro |
| ENST00000300527.9:c.2465T>C MANE Select | ENSP00000300527.4:p.Leu822Pro |
| NM_001849.3:c.2465T>C , LRG_476t1:c.2465T>C | NP_001840.3:p.Leu822Pro |
| ENST00000300527.8:c.2465T>C | ENSP00000300527.4:p.Leu822Pro |
| XM_011529451.1:c.2465T>C | XP_011527753.1:p.Leu822Pro |
| XM_011529452.1:c.2465T>C | XP_011527754.1:p.Leu822Pro |
| XR_937438.1:n.2542T>C | |
| XR_937438.2:n.2549T>C |