Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42163639A>C , CM000679.2:g.42163639A>C | GRCh38 |
| NC_000017.10:g.40315657A>C , CM000679.1:g.40315657A>C | GRCh37 |
| NC_000017.9:g.37569183A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012285.3:c.2444T>G MANE Select | NP_036417.1:p.Leu815Arg |
| ENST00000264661.4:c.2444T>G MANE Select | ENSP00000264661.2:p.Leu815Arg |
| NM_012285.2:c.2444T>G | NP_036417.1:p.Leu815Arg |
| ENST00000264661.3:c.2444T>G | ENSP00000264661.2:p.Leu815Arg |
| ENST00000607371.5:c.2444T>G | ENSP00000475564.1:p.Leu815Arg |
| XM_017024400.2:c.2444T>G | XP_016879889.1:p.Leu815Arg |
| XM_017024401.2:c.2297T>G | XP_016879890.1:p.Leu766Arg |
| XM_017024402.1:c.2264T>G | XP_016879891.1:p.Leu755Arg |