Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73981902C>G , CM000666.2:g.73981902C>G | GRCh38 |
| NC_000004.11:g.74847619C>G , CM000666.1:g.74847619C>G | GRCh37 |
| NC_000004.10:g.75066483C>G | NCBI36 |
| NG_032897.1:g.5223G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687529.1:c.52G>C | ENSP00000508485.1:p.Gly18Arg | |
| ENST00000689521.1:c.*444G>C | ENSP00000509524.1:n.*444G>C | |
| ENST00000693342.1:c.368-359G>C | ENSP00000510492.1:n.368-359G>C | |
| ENST00000296029.4:c.52G>C MANE Select | ENSP00000296029.3:p.Gly18Arg | |
| ENST00000296029.3:c.52G>C | ENSP00000296029.3:p.Gly18Arg | |
| NM_002619.3:c.52G>C | NP_002610.1:p.Gly18Arg | |
| NM_001363352.1:c.-127G>C | NP_001350281.1:n.-127G>C | |
| NM_002619.4:c.52G>C MANE Select | NP_002610.1:p.Gly18Arg |