Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224157682G>T , CM000663.2:g.224157682G>T | GRCh38 |
| NC_000001.10:g.224345384G>T , CM000663.1:g.224345384G>T | GRCh37 |
| NC_000001.9:g.222412007G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366862.10:c.1043G>T MANE Select | ENSP00000355827.5:p.Arg348Leu | |
| ENST00000366862.9:c.1043G>T | ENSP00000355827.5:p.Arg348Leu | |
| ENST00000424254.6:c.*307G>T | ENSP00000416888.2:n.*307G>T | |
| ENST00000523990.1:c.*523G>T | ENSP00000430632.1:n.*523G>T | |
| NM_001136115.2:c.*307G>T | NP_001129587.1:n.*307G>T | |
| NM_015176.3:c.1043G>T | NP_055991.1:p.Arg348Leu | |
| NR_049764.1:n.947G>T | ||
| NM_015176.4:c.1043G>T MANE Select | NP_055991.1:p.Arg348Leu | |
| NM_001136115.3:c.*307G>T | NP_001129587.1:n.*307G>T | |
| NR_049764.2:n.923G>T |