Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966525C= , CM000685.2:g.154966525C= | GRCh38 |
| NC_000023.10:g.154194800C= , CM000685.1:g.154194800C= | GRCh37 |
| NC_000023.9:g.153847994C= | NCBI36 |
| NG_011403.1:g.61199G= | |
| NG_011403.2:g.61199G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1172G= MANE Select | ENSP00000353393.4:p.Arg391= | |
| ENST00000647125.1:c.*1048G= | ENSP00000496062.1:n.*1048G= | |
| ENST00000360256.8:c.1172G= | ENSP00000353393.4:p.Arg391= | |
| NM_000132.3:c.1172G= | NP_000123.1:p.Arg391= | |
| XM_011531126.1:c.1067G= | XP_011529428.1:p.Arg356= | |
| NM_000132.4:c.1172G= MANE Select | NP_000123.1:p.Arg391= |