Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665672G= , CM000679.2:g.39665672G= | GRCh38 |
| NC_000017.10:g.37821925G= , CM000679.1:g.37821925G= | GRCh37 |
| NC_000017.9:g.35075451G= | NCBI36 |
| NG_008892.1:g.5327G= , LRG_210:g.5327G= | |
| NG_042278.1:g.2692G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309889.3:c.111-44G= MANE Select | ENSP00000312624.2:n.111-44G= | |
| ENST00000309889.2:c.111-44G= | ENSP00000312624.2:n.111-44G= | |
| ENST00000578283.1:c.111-44G= | ENSP00000462787.1:n.111-44G= | |
| NM_003673.3:c.111-44G= , LRG_210t1:c.111-44G= | NP_003664.1:n.111-44G= | |
| NM_003673.4:c.111-44G= MANE Select | NP_003664.1:n.111-44G= |