Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45082243T>G , CM000669.2:g.45082243T>G | GRCh38 |
| NC_000007.13:g.45121842T>G , CM000669.1:g.45121842T>G | GRCh37 |
| NC_000007.12:g.45088367T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001146334.2:c.3937A>C MANE Select | NP_001139806.1:p.Met1313Leu |
| ENST00000490531.3:c.3937A>C MANE Select | ENSP00000420477.2:p.Met1313Leu |
| NM_001146334.1:c.3937A>C | NP_001139806.1:p.Met1313Leu |
| ENST00000490531.2:c.3937A>C | ENSP00000420477.2:p.Met1313Leu |
| XM_006715674.2:c.3298A>C | XP_006715737.1:p.Met1100Leu |
| XM_006715674.3:c.3298A>C | XP_006715737.1:p.Met1100Leu |
| XR_002956415.1:n.4495A>C |