Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816731C>T , CM000681.2:g.4816731C>T | GRCh38 |
| NC_000019.9:g.4816743C>T , CM000681.1:g.4816743C>T | GRCh37 |
| NC_000019.8:g.4767743C>T | NCBI36 |
| NG_031998.1:g.20012G>A , LRG_358:g.20012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1647G>A MANE Select | ENSP00000248244.4:p.Leu549= | |
| ENST00000248244.5:c.1647G>A | ENSP00000248244.4:p.Leu549= | |
| ENST00000621756.1:c.1230G>A | ENSP00000479467.1:p.Leu410= | |
| NM_182919.3:c.1647G>A , LRG_358t1:c.1647G>A | NP_891549.1:p.Leu549= | |
| NM_001385678.1:c.1605G>A | NP_001372607.1:p.Leu535= | |
| NM_001385679.1:c.1512G>A | NP_001372608.1:p.Leu504= | |
| NM_001385680.1:c.1005G>A | NP_001372609.1:p.Leu335= | |
| NM_182919.4:c.1647G>A MANE Select | NP_891549.1:p.Leu549= |