Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660654C= , CM000669.2:g.152660654C= | GRCh38 |
| NC_000007.13:g.152357739C= , CM000669.1:g.152357739C= | GRCh37 |
| NC_000007.12:g.151988672C= | NCBI36 |
| NG_027988.1:g.20512G= | |
| NG_027988.2:g.20512G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11291G= | ENSP00000513758.1:n.-47-11291G= | |
| ENST00000698507.1:n.236G= | ||
| ENST00000359321.2:c.121+47G= MANE Select | ENSP00000352271.1:n.121+47G= | |
| ENST00000359321.1:c.121+47G= | ENSP00000352271.1:n.121+47G= | |
| ENST00000495707.1:n.143+47G= | ||
| NM_005431.1:c.121+47G= | NP_005422.1:n.121+47G= | |
| NM_005431.2:c.121+47G= MANE Select | NP_005422.1:n.121+47G= |