Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132550T>C , CM000683.2:g.46132550T>C | GRCh38 |
| NC_000021.8:g.47552464T>C , CM000683.1:g.47552464T>C | GRCh37 |
| NC_000021.7:g.46376892T>C | NCBI36 |
| NG_008675.1:g.39432T>C , LRG_476:g.39432T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.3058T>C MANE Select | NP_001840.3:p.Ter1020Gln |
| ENST00000300527.9:c.3058T>C MANE Select | ENSP00000300527.4:p.Ter1020Gln |
| NM_001849.3:c.3058T>C , LRG_476t1:c.3058T>C | NP_001840.3:p.Ter1020Gln |
| ENST00000300527.8:c.3058T>C | ENSP00000300527.4:p.Ter1020Gln |
| XM_011529451.1:c.3058T>C | XP_011527753.1:p.Ter1020Gln |
| XM_011529452.1:c.3058T>C | XP_011527754.1:p.Ter1020Gln |
| XR_937438.1:n.3135T>C | |
| XR_937438.2:n.3142T>C |