Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93102980G>A , CM000669.2:g.93102980G>A | GRCh38 |
| NC_000007.13:g.92732293G>A , CM000669.1:g.92732293G>A | GRCh37 |
| NC_000007.12:g.92570229G>A | NCBI36 |
| NG_023419.1:g.20044C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017654.4:c.3118C>T MANE Select | NP_060124.2:p.Arg1040Cys |
| ENST00000379958.3:c.3118C>T MANE Select | ENSP00000369292.2:p.Arg1040Cys |
| NM_001193307.1:c.3118C>T | NP_001180236.1:p.Arg1040Cys |
| NM_001193307.2:c.3118C>T | NP_001180236.1:p.Arg1040Cys |
| NM_017654.3:c.3118C>T | NP_060124.2:p.Arg1040Cys |
| ENST00000379958.2:c.3118C>T | ENSP00000369292.2:p.Arg1040Cys |
| ENST00000446617.1:c.3118C>T | ENSP00000414529.1:p.Arg1040Cys |
| ENST00000620985.4:c.3118C>T | ENSP00000484636.1:p.Arg1040Cys |