Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612550C>G , CM000679.2:g.41612550C>G | GRCh38 |
| NC_000017.10:g.39768802C>G , CM000679.1:g.39768802C>G | GRCh37 |
| NC_000017.9:g.37022328C>G | NCBI36 |
| NG_008301.1:g.5278G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.139G>C MANE Select | ENSP00000301653.3:p.Gly47Arg | |
| ENST00000301653.8:c.139G>C | ENSP00000301653.3:p.Gly47Arg | |
| ENST00000588319.1:n.216G>C | ||
| ENST00000590990.1:c.139G>C | ENSP00000467105.1:p.Gly47Arg | |
| ENST00000593067.1:c.-313+240G>C | ENSP00000467124.1:n.-313+240G>C | |
| NM_005557.3:c.139G>C | NP_005548.2:p.Gly47Arg | |
| NM_005557.4:c.139G>C MANE Select | NP_005548.2:p.Gly47Arg |