Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124343C>G , CM000664.2:g.71124343C>G | GRCh38 |
| NC_000002.11:g.71351473C>G , CM000664.1:g.71351473C>G | GRCh37 |
| NC_000002.10:g.71204981C>G | NCBI36 |
| NG_008977.1:g.10922G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.241G>C MANE Select | ENSP00000244217.5:p.Glu81Gln | |
| ENST00000244217.5:c.241G>C | ENSP00000244217.5:p.Glu81Gln | |
| ENST00000413592.5:c.84+25G>C | ENSP00000391140.1:n.84+25G>C | |
| ENST00000486135.1:c.-45G>C | ENSP00000441569.1:n.-45G>C | |
| ENST00000494660.6:c.-45G>C | ENSP00000437361.1:n.-45G>C | |
| NM_032601.3:c.241G>C | NP_115990.3:p.Glu81Gln | |
| XM_005264613.2:c.216+25G>C | XP_005264670.1:n.216+25G>C | |
| XR_939729.1:n.310G>C | ||
| XR_939729.2:n.310G>C | ||
| NM_032601.4:c.241G>C MANE Select | NP_115990.3:p.Glu81Gln |