Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114221G= , CM000667.2:g.140114221G= | GRCh38 |
| NC_000005.9:g.139493806G= , CM000667.1:g.139493806G= | GRCh37 |
| NC_000005.8:g.139473990G= | NCBI36 |
| NG_041813.1:g.5099G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.40G= MANE Select | ENSP00000332706.3:p.Ala14= | |
| ENST00000505703.2:c.40G= | ENSP00000498560.1:p.Ala14= | |
| ENST00000651386.1:c.40G= | ENSP00000499133.1:p.Ala14= | |
| ENST00000331327.4:c.40G= | ENSP00000332706.3:p.Ala14= | |
| ENST00000502351.1:n.463G= | ||
| ENST00000505703.1:n.505G= | ||
| NM_005859.4:c.40G= | NP_005850.1:p.Ala14= | |
| NM_005859.5:c.40G= MANE Select | NP_005850.1:p.Ala14= |