Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32940104A>G , CM000668.2:g.32940104A>G | GRCh38 |
| NC_000006.11:g.32907881A>G , CM000668.1:g.32907881A>G | GRCh37 |
| NC_000006.10:g.33015859A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002118.5:c.55+649T>C MANE Select | NP_002109.2:n.55+649T>C |
| ENST00000418107.3:c.55+649T>C MANE Select | ENSP00000398890.2:n.55+649T>C |
| NM_002118.4:c.55+649T>C | NP_002109.2:n.55+649T>C |
| ENST00000418107.2:c.55+649T>C | ENSP00000398890.2:n.55+649T>C |
| ENST00000429234.1:c.151+649T>C | ENSP00000412457.1:n.151+649T>C |
| ENST00000498020.1:n.232+649T>C |