Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663032G>A , CM000676.2:g.36663032G>A | GRCh38 |
| NC_000014.8:g.37132237G>A , CM000676.1:g.37132237G>A | GRCh37 |
| NC_000014.7:g.36201988G>A | NCBI36 |
| NG_013357.1:g.10465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.140G>A MANE Select | ENSP00000355245.6:p.Arg47Gln | |
| ENST00000555639.2:c.140G>A | ENSP00000501203.1:p.Arg47Gln | |
| ENST00000361487.6:c.140G>A | ENSP00000355245.6:p.Arg47Gln | |
| ENST00000402703.6:c.140G>A | ENSP00000384817.2:p.Arg47Gln | |
| ENST00000554201.1:c.-422G>A | ENSP00000450434.1:n.-422G>A | |
| ENST00000555639.1:n.442G>A | ||
| NM_006194.3:c.140G>A | NP_006185.1:p.Arg47Gln | |
| NM_001372076.1:c.140G>A MANE Select | NP_001359005.1:p.Arg47Gln | |
| NM_006194.4:c.140G>A | NP_006185.1:p.Arg47Gln |