Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816762A= , CM000681.2:g.4816762A= | GRCh38 |
| NC_000019.9:g.4816774A= , CM000681.1:g.4816774A= | GRCh37 |
| NC_000019.8:g.4767774A= | NCBI36 |
| NG_031998.1:g.19981T= , LRG_358:g.19981T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1616T= MANE Select | ENSP00000248244.4:p.Met539= | |
| ENST00000248244.5:c.1616T= | ENSP00000248244.4:p.Met539= | |
| ENST00000621756.1:c.1199T= | ENSP00000479467.1:p.Met400= | |
| NM_182919.3:c.1616T= , LRG_358t1:c.1616T= | NP_891549.1:p.Met539= | |
| NM_001385678.1:c.1574T= | NP_001372607.1:p.Met525= | |
| NM_001385679.1:c.1481T= | NP_001372608.1:p.Met494= | |
| NM_001385680.1:c.974T= | NP_001372609.1:p.Met325= | |
| NM_182919.4:c.1616T= MANE Select | NP_891549.1:p.Met539= |