Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25231099C= , CM000664.2:g.25231099C= | GRCh38 |
| NC_000002.11:g.25453968C= , CM000664.1:g.25453968C= | GRCh37 |
| NC_000002.10:g.25307472C= | NCBI36 |
| NG_029465.2:g.116492G= , LRG_459:g.116492G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022552.5:c.*3180G= MANE Select | NP_072046.2:n.*3180G= |
| ENST00000321117.10:c.*3180G= MANE Select | ENSP00000324375.5:n.*3180G= |
| NR_135490.2:n.6349G= | |
| ENST00000264709.7:c.*3180G= | ENSP00000264709.3:n.*3180G= |