Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564622T>G , CM000684.2:g.36564622T>G | GRCh38 |
| NC_000022.10:g.36960669T>G , CM000684.1:g.36960669T>G | GRCh37 |
| NC_000022.9:g.35290615T>G | NCBI36 |
| NG_031861.1:g.143022A>C | |
| NG_031861.2:g.143237A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.701A>C MANE Select | ENSP00000300105.6:p.Gln234Pro | |
| ENST00000300105.6:c.701A>C | ENSP00000300105.6:p.Gln234Pro | |
| NM_006078.3:c.701A>C | NP_006069.1:p.Gln234Pro | |
| NM_006078.4:c.701A>C | NP_006069.1:p.Gln234Pro | |
| XM_017028531.2:c.443A>C | XP_016884020.1:p.Gln148Pro | |
| NM_001379051.1:c.632A>C | NP_001365980.1:p.Gln211Pro | |
| NM_006078.5:c.701A>C MANE Select | NP_006069.1:p.Gln234Pro | |
| NR_166440.1:n.2067A>C |