Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124444C>T , CM000664.2:g.71124444C>T | GRCh38 |
| NC_000002.11:g.71351574C>T , CM000664.1:g.71351574C>T | GRCh37 |
| NC_000002.10:g.71205082C>T | NCBI36 |
| NG_008977.1:g.10821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.140G>A MANE Select | ENSP00000244217.5:p.Arg47Gln | |
| ENST00000244217.5:c.140G>A | ENSP00000244217.5:p.Arg47Gln | |
| ENST00000413592.5:c.8G>A | ENSP00000391140.1:p.Arg3Gln | |
| ENST00000486135.1:c.-146G>A | ENSP00000441569.1:n.-146G>A | |
| ENST00000494660.6:c.-146G>A | ENSP00000437361.1:n.-146G>A | |
| NM_032601.3:c.140G>A | NP_115990.3:p.Arg47Gln | |
| XM_005264613.2:c.140G>A | XP_005264670.1:p.Arg47Gln | |
| XR_939729.1:n.209G>A | ||
| XR_939729.2:n.209G>A | ||
| NM_032601.4:c.140G>A MANE Select | NP_115990.3:p.Arg47Gln |