Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.119222275A= , CM000671.2:g.119222275A= | GRCh38 |
| NC_000009.11:g.121984553A= , CM000671.1:g.121984553A= | GRCh37 |
| NC_000009.10:g.121024374A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014618.3:c.686-8120T= MANE Select | NP_055433.2:n.686-8120T= |
| ENST00000265922.8:c.686-8120T= MANE Select | ENSP00000265922.2:n.686-8120T= |
| NM_014618.2:c.686-8120T= | NP_055433.2:n.686-8120T= |
| ENST00000265922.7:c.686-8120T= | ENSP00000265922.2:n.686-8120T= |
| ENST00000373964.2:c.686-8120T= | ENSP00000363075.1:n.686-8120T= |