Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745947G= , CM000665.2:g.8745947G= | GRCh38 |
| NC_000003.11:g.8787633G= , CM000665.1:g.8787633G= | GRCh37 |
| NC_000003.10:g.8762633G= | NCBI36 |
| NG_008797.2:g.17138G= , LRG_329:g.17138G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*80G= MANE Select | ENSP00000341940.2:n.*80G= | |
| ENST00000343849.2:c.*80G= | ENSP00000341940.2:n.*80G= | |
| ENST00000397368.2:c.*7-23G= | ENSP00000380525.2:n.*7-23G= | |
| ENST00000472766.1:n.155+11957G= | ||
| NM_001234.4:c.*7-23G= | NP_001225.1:n.*7-23G= | |
| NM_033337.2:c.*80G= , LRG_329t1:c.*80G= | NP_203123.1:n.*80G= | |
| NM_001234.5:c.*7-23G= | NP_001225.1:n.*7-23G= | |
| NM_033337.3:c.*80G= MANE Select | NP_203123.1:n.*80G= |