Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816818G= , CM000681.2:g.4816818G= | GRCh38 |
| NC_000019.9:g.4816830G= , CM000681.1:g.4816830G= | GRCh37 |
| NC_000019.8:g.4767830G= | NCBI36 |
| NG_031998.1:g.19925C= , LRG_358:g.19925C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1560C= MANE Select | ENSP00000248244.4:p.Phe520= | |
| ENST00000248244.5:c.1560C= | ENSP00000248244.4:p.Phe520= | |
| ENST00000621756.1:c.1143C= | ENSP00000479467.1:p.Phe381= | |
| NM_182919.3:c.1560C= , LRG_358t1:c.1560C= | NP_891549.1:p.Phe520= | |
| NM_001385678.1:c.1518C= | NP_001372607.1:p.Phe506= | |
| NM_001385679.1:c.1425C= | NP_001372608.1:p.Phe475= | |
| NM_001385680.1:c.918C= | NP_001372609.1:p.Phe306= | |
| NM_182919.4:c.1560C= MANE Select | NP_891549.1:p.Phe520= |