Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115700566C= , CM000663.2:g.115700566C= | GRCh38 |
| NC_000001.10:g.116243187C= , CM000663.1:g.116243187C= | GRCh37 |
| NC_000001.9:g.116044710C= | NCBI36 |
| NG_008802.1:g.73240G= , LRG_404:g.73240G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*1247G= | ENSP00000518226.1:n.*1247G= | |
| ENST00000261448.6:c.*675G= MANE Select | ENSP00000261448.5:n.*675G= | |
| ENST00000261448.5:c.*675G= | ENSP00000261448.5:n.*675G= | |
| NM_001232.3:c.*675G= , LRG_404t1:c.*675G= | NP_001223.2:n.*675G= | |
| NM_001232.4:c.*675G= MANE Select | NP_001223.2:n.*675G= |