Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75922079T>A , CM000668.2:g.75922079T>A | GRCh38 |
| NC_000006.11:g.76631796T>A , CM000668.1:g.76631796T>A | GRCh37 |
| NC_000006.10:g.76688516T>A | NCBI36 |
| NG_041812.1:g.155600A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.*10A>T MANE Select | NP_001554.2:n.*10A>T |
| ENST00000369950.8:c.*10A>T MANE Select | ENSP00000358966.3:n.*10A>T |
| NM_001282368.1:c.*10A>T | NP_001269297.1:n.*10A>T |
| NM_001282368.2:c.*10A>T | NP_001269297.1:n.*10A>T |
| NM_001563.3:c.*10A>T | NP_001554.2:n.*10A>T |
| ENST00000369950.7:c.*10A>T | ENSP00000358966.3:n.*10A>T |
| ENST00000369952.3:c.487A>T | ENSP00000358968.3:n.487A>T |
| ENST00000611179.4:c.*10A>T | ENSP00000481913.1:n.*10A>T |