Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10629882T>G , CM000679.2:g.10629882T>G | GRCh38 |
| NC_000017.10:g.10533199T>G , CM000679.1:g.10533199T>G | GRCh37 |
| NC_000017.9:g.10473924T>G | NCBI36 |
| NG_011537.1:g.32417A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002470.4:c.5618A>C MANE Select | NP_002461.2:p.Gln1873Pro |
| ENST00000583535.6:c.5618A>C MANE Select | ENSP00000464317.1:p.Gln1873Pro |
| NM_002470.3:c.5618A>C | NP_002461.2:p.Gln1873Pro |
| ENST00000577963.1:n.53A>C | |
| ENST00000579928.2:n.148A>C | |
| ENST00000583535.5:c.5618A>C | ENSP00000464317.1:p.Gln1873Pro |
| XM_011523870.1:c.5618A>C | XP_011522172.1:p.Gln1873Pro |
| XM_011523870.3:c.5618A>C | XP_011522172.1:p.Gln1873Pro |
| XM_011523871.1:c.5618A>C | XP_011522173.1:p.Gln1873Pro |
| XM_011523871.2:c.5618A>C | XP_011522173.1:p.Gln1873Pro |