Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816784T>G , CM000681.2:g.4816784T>G | GRCh38 |
| NC_000019.9:g.4816796T>G , CM000681.1:g.4816796T>G | GRCh37 |
| NC_000019.8:g.4767796T>G | NCBI36 |
| NG_031998.1:g.19959A>C , LRG_358:g.19959A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1594A>C MANE Select | ENSP00000248244.4:p.Arg532= | |
| ENST00000248244.5:c.1594A>C | ENSP00000248244.4:p.Arg532= | |
| ENST00000621756.1:c.1177A>C | ENSP00000479467.1:p.Arg393= | |
| NM_182919.3:c.1594A>C , LRG_358t1:c.1594A>C | NP_891549.1:p.Arg532= | |
| NM_001385678.1:c.1552A>C | NP_001372607.1:p.Arg518= | |
| NM_001385679.1:c.1459A>C | NP_001372608.1:p.Arg487= | |
| NM_001385680.1:c.952A>C | NP_001372609.1:p.Arg318= | |
| NM_182919.4:c.1594A>C MANE Select | NP_891549.1:p.Arg532= |