Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619163G>C , CM000669.2:g.21619163G>C | GRCh38 |
| NC_000007.13:g.21658781G>C , CM000669.1:g.21658781G>C | GRCh37 |
| NC_000007.12:g.21625306G>C | NCBI36 |
| NG_012886.2:g.80949G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.4318G>C MANE Select | NP_001264044.1:p.Val1440Leu |
| ENST00000409508.8:c.4318G>C MANE Select | ENSP00000475939.1:p.Val1440Leu |
| NM_001277115.1:c.4318G>C | NP_001264044.1:p.Val1440Leu |
| ENST00000328843.10:c.4333G>C | ENSP00000330671.7:p.Val1445Leu |
| ENST00000409508.7:c.4318G>C | ENSP00000475939.1:p.Val1440Leu |
| ENST00000465593.1:n.344G>C | |
| ENST00000620169.4:c.4333G>C | ENSP00000481693.1:p.Val1445Leu |