Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50019026C>T , CM000668.2:g.50019026C>T | GRCh38 |
| NC_000006.11:g.49986739C>T , CM000668.1:g.49986739C>T | GRCh37 |
| NC_000006.10:g.50094698C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001037497.2:c.155G>A MANE Select | NP_001032586.1:p.Arg52Lys |
| ENST00000371148.3:c.155G>A MANE Select | ENSP00000360190.2:p.Arg52Lys |
| NM_001037497.1:c.155G>A | NP_001032586.1:p.Arg52Lys |
| NM_001037728.2:c.55+2855G>A | NP_001032817.1:n.55+2855G>A |
| ENST00000371148.2:c.155G>A | ENSP00000360190.2:p.Arg52Lys |
| ENST00000393660.2:c.55+2855G>A | ENSP00000377270.2:n.55+2855G>A |