Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132438G>C , CM000683.2:g.46132438G>C | GRCh38 |
| NC_000021.8:g.47552352G>C , CM000683.1:g.47552352G>C | GRCh37 |
| NC_000021.7:g.46376780G>C | NCBI36 |
| NG_008675.1:g.39320G>C , LRG_476:g.39320G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2946G>C MANE Select | NP_001840.3:p.Met982Ile |
| ENST00000300527.9:c.2946G>C MANE Select | ENSP00000300527.4:p.Met982Ile |
| NM_001849.3:c.2946G>C , LRG_476t1:c.2946G>C | NP_001840.3:p.Met982Ile |
| ENST00000300527.8:c.2946G>C | ENSP00000300527.4:p.Met982Ile |
| XM_011529451.1:c.2946G>C | XP_011527753.1:p.Met982Ile |
| XM_011529452.1:c.2946G>C | XP_011527754.1:p.Met982Ile |
| XR_937438.1:n.3023G>C | |
| XR_937438.2:n.3030G>C |