Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132118C= , CM000683.2:g.46132118C= | GRCh38 |
| NC_000021.8:g.47552032C= , CM000683.1:g.47552032C= | GRCh37 |
| NC_000021.7:g.46376460C= | NCBI36 |
| NG_008675.1:g.39000C= , LRG_476:g.39000C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2626C= MANE Select | NP_001840.3:p.Arg876= |
| ENST00000300527.9:c.2626C= MANE Select | ENSP00000300527.4:p.Arg876= |
| NM_001849.3:c.2626C= , LRG_476t1:c.2626C= | NP_001840.3:p.Arg876= |
| ENST00000300527.8:c.2626C= | ENSP00000300527.4:p.Arg876= |
| XM_011529451.1:c.2626C= | XP_011527753.1:p.Arg876= |
| XM_011529452.1:c.2626C= | XP_011527754.1:p.Arg876= |
| XR_937438.1:n.2703C= | |
| XR_937438.2:n.2710C= |