Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6084121A>C , CM000682.2:g.6084121A>C | GRCh38 |
| NC_000020.10:g.6064768A>C , CM000682.1:g.6064768A>C | GRCh37 |
| NC_000020.9:g.6012768A>C | NCBI36 |
| NG_016213.1:g.44424T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1637T>G | ENSP00000514127.1:p.Met546Arg | |
| ENST00000217289.9:c.1637T>G MANE Select | ENSP00000217289.4:p.Met546Arg | |
| ENST00000217289.8:c.1637T>G | ENSP00000217289.4:p.Met546Arg | |
| ENST00000478194.1:n.597T>G | ||
| ENST00000536936.1:c.866T>G | ENSP00000441063.1:p.Met289Arg | |
| NM_017671.4:c.1637T>G | NP_060141.3:p.Met546Arg | |
| XM_024451935.1:c.1637T>G | XP_024307703.1:p.Met546Arg | |
| NM_017671.5:c.1637T>G MANE Select | NP_060141.3:p.Met546Arg |