Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96897244A>T , CM000668.2:g.96897244A>T | GRCh38 |
| NC_000006.11:g.97345120A>T , CM000668.1:g.97345120A>T | GRCh37 |
| NC_000006.10:g.97451841A>T | NCBI36 |
| NG_013379.1:g.5648T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.137-397T>A MANE Select | NP_054884.1:n.137-397T>A |
| ENST00000316149.8:c.137-397T>A MANE Select | ENSP00000358272.4:n.137-397T>A |
| NM_014165.3:c.137-397T>A | NP_054884.1:n.137-397T>A |
| ENST00000316149.7:c.137-397T>A | ENSP00000358272.4:n.137-397T>A |
| ENST00000489477.1:n.210-397T>A |