Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150297917C>T , CM000667.2:g.150297917C>T | GRCh38 |
| NC_000005.9:g.149677480C>T , CM000667.1:g.149677480C>T | GRCh37 |
| NC_000005.8:g.149657673C>T | NCBI36 |
| NG_051250.1:g.10046G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001012301.4:c.1007G>A MANE Select | NP_001012301.1:p.Arg336Gln |
| ENST00000328668.8:c.1007G>A MANE Select | ENSP00000333395.7:p.Arg336Gln |
| NM_001012301.2:c.1007G>A | NP_001012301.1:p.Arg336Gln |
| NM_001012301.3:c.1007G>A | NP_001012301.1:p.Arg336Gln |
| ENST00000328668.7:c.1007G>A | ENSP00000333395.7:p.Arg336Gln |
| ENST00000515301.2:c.578G>A | ENSP00000426879.2:p.Arg193Gln |