Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146262151T= , CM000669.2:g.146262151T= | GRCh38 |
| NC_000007.13:g.145959243T= , CM000669.1:g.145959243T= | GRCh37 |
| NC_000007.12:g.145590176T= | NCBI36 |
| NG_007092.2:g.150791T= | |
| NG_007092.3:g.151151T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.97+145178T= MANE Select | NP_054860.1:n.97+145178T= |
| ENST00000361727.8:c.97+145178T= MANE Select | ENSP00000354778.3:n.97+145178T= |
| NM_014141.5:c.97+145178T= | NP_054860.1:n.97+145178T= |
| ENST00000361727.7:c.97+145178T= | ENSP00000354778.3:n.97+145178T= |
| ENST00000625365.2:c.97+145178T= | ENSP00000485955.1:n.97+145178T= |
| ENST00000637150.1:n.26+145178T= | |
| XM_017011950.2:c.97+145178T= | XP_016867439.1:n.97+145178T= |