Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50820217C>G , CM000681.2:g.50820217C>G | GRCh38 |
| NC_000019.9:g.51323473C>G , CM000681.1:g.51323473C>G | GRCh37 |
| NC_000019.8:g.56015285C>G | NCBI36 |
| NG_012094.1:g.8571G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002257.4:c.433G>C MANE Select | NP_002248.1:p.Glu145Gln |
| ENST00000301420.3:c.433G>C MANE Select | ENSP00000301420.1:p.Glu145Gln |
| NM_002257.3:c.433G>C | NP_002248.1:p.Glu145Gln |
| ENST00000301420.2:c.433G>C | ENSP00000301420.1:p.Glu145Gln |
| ENST00000593325.5:c.*1242G>C | ENSP00000472939.1:n.*1242G>C |
| ENST00000593859.5:n.472G>C | |
| ENST00000596300.1:n.633G>C | |
| XM_011526942.1:c.127G>C | XP_011525244.1:p.Glu43Gln |