Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109274968G= , CM000663.2:g.109274968G= | GRCh38 |
| NC_000001.10:g.109817590G= , CM000663.1:g.109817590G= | GRCh37 |
| NC_000001.9:g.109619113G= | NCBI36 |
| NG_052669.1:g.30264G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.*919G= MANE Select | ENSP00000271332.3:n.*919G= | |
| ENST00000271332.3:c.*919G= | ENSP00000271332.3:n.*919G= | |
| ENST00000498157.1:n.3041G= | ||
| NM_001408.2:c.*919G= | NP_001399.1:n.*919G= | |
| XM_005270580.3:c.*786G= | XP_005270637.1:n.*786G= | |
| NM_001408.3:c.*919G= MANE Select | NP_001399.1:n.*919G= |