Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542380T>G , CM000664.2:g.202542380T>G | GRCh38 |
| NC_000002.11:g.203407103T>G , CM000664.1:g.203407103T>G | GRCh37 |
| NC_000002.10:g.203115348T>G | NCBI36 |
| NG_009363.1:g.171054T>G , LRG_712:g.171054T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1346T>G MANE Select | ENSP00000363708.4:p.Met449Arg | |
| ENST00000638587.1:c.1277T>G | ENSP00000491062.1:p.Met426Arg | |
| ENST00000374574.2:c.1346T>G | ENSP00000363702.2:p.Met449Arg | |
| ENST00000374580.8:c.1346T>G | ENSP00000363708.4:p.Met449Arg | |
| NM_001204.6:c.1346T>G , LRG_712t1:c.1346T>G | NP_001195.2:p.Met449Arg | |
| XM_011511687.1:c.1346T>G | XP_011509989.1:p.Met449Arg | |
| XM_011511688.1:c.1346T>G | XP_011509990.1:p.Met449Arg | |
| NM_001204.7:c.1346T>G MANE Select | NP_001195.2:p.Met449Arg |