Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816319C>A , CM000681.2:g.4816319C>A | GRCh38 |
| NC_000019.9:g.4816331C>A , CM000681.1:g.4816331C>A | GRCh37 |
| NC_000019.8:g.4767331C>A | NCBI36 |
| NG_031998.1:g.20424G>T , LRG_358:g.20424G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2059G>T MANE Select | ENSP00000248244.4:p.Val687Leu | |
| ENST00000248244.5:c.2059G>T | ENSP00000248244.4:p.Val687Leu | |
| ENST00000621756.1:c.1561G>T | ENSP00000479467.1:p.Val521Leu | |
| NM_182919.3:c.2059G>T , LRG_358t1:c.2059G>T | NP_891549.1:p.Val687Leu | |
| NM_001385678.1:c.2017G>T | NP_001372607.1:p.Val673Leu | |
| NM_001385679.1:c.1924G>T | NP_001372608.1:p.Val642Leu | |
| NM_001385680.1:c.1417G>T | NP_001372609.1:p.Val473Leu | |
| NM_182919.4:c.2059G>T MANE Select | NP_891549.1:p.Val687Leu |