Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660644G>A , CM000669.2:g.152660644G>A | GRCh38 |
| NC_000007.13:g.152357729G>A , CM000669.1:g.152357729G>A | GRCh37 |
| NC_000007.12:g.151988662G>A | NCBI36 |
| NG_027988.1:g.20522C>T | |
| NG_027988.2:g.20522C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11281C>T | ENSP00000513758.1:n.-47-11281C>T | |
| ENST00000698507.1:n.246C>T | ||
| ENST00000359321.2:c.121+57C>T MANE Select | ENSP00000352271.1:n.121+57C>T | |
| ENST00000359321.1:c.121+57C>T | ENSP00000352271.1:n.121+57C>T | |
| ENST00000495707.1:n.143+57C>T | ||
| NM_005431.1:c.121+57C>T | NP_005422.1:n.121+57C>T | |
| NM_005431.2:c.121+57C>T MANE Select | NP_005422.1:n.121+57C>T |