Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182834857G>A , CM000664.2:g.182834857G>A | GRCh38 |
| NC_000002.11:g.183699584G>A , CM000664.1:g.183699584G>A | GRCh37 |
| NC_000002.10:g.183407829G>A | NCBI36 |
| NG_017197.1:g.36915C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001463.4:c.970C>T MANE Select | NP_001454.2:p.Arg324Cys |
| ENST00000295113.5:c.970C>T MANE Select | ENSP00000295113.4:p.Arg324Cys |
| NM_001463.3:c.970C>T | NP_001454.2:p.Arg324Cys |
| ENST00000295113.4:c.970C>T | ENSP00000295113.4:p.Arg324Cys |