Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23675046G>C , CM000685.2:g.23675046G>C | GRCh38 |
| NC_000023.10:g.23693163G>C , CM000685.1:g.23693163G>C | GRCh37 |
| NC_000023.9:g.23603084G>C | NCBI36 |
| NG_012563.1:g.12519G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006406.2:c.416G>C MANE Select | NP_006397.1:p.Arg139Thr |
| ENST00000379341.9:c.416G>C MANE Select | ENSP00000368646.4:p.Arg139Thr |
| NM_006406.1:c.416G>C | NP_006397.1:p.Arg139Thr |
| ENST00000379331.3:c.416G>C | ENSP00000368635.3:p.Arg139Thr |
| ENST00000379341.8:c.416G>C | ENSP00000368646.4:p.Arg139Thr |
| ENST00000379349.5:c.374G>C | ENSP00000368654.1:p.Arg125Thr |
| ENST00000439422.1:c.48G>C | |
| ENST00000495599.1:n.528G>C | |
| XM_005274438.1:c.374G>C | XP_005274495.1:p.Arg125Thr |