Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004200G>A , CM000664.2:g.189004200G>A | GRCh38 |
| NC_000002.11:g.189868926G>A , CM000664.1:g.189868926G>A | GRCh37 |
| NC_000002.10:g.189577171G>A | NCBI36 |
| NG_007404.1:g.34828G>A , LRG_3:g.34828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2725-57G>A | ENSP00000415346.2:n.2725-57G>A | |
| ENST00000304636.9:c.2824-57G>A MANE Select | ENSP00000304408.4:n.2824-57G>A | |
| ENST00000304636.7:c.2824-57G>A | ENSP00000304408.3:n.2824-57G>A | |
| ENST00000317840.9:c.2527+1164G>A | ENSP00000315243.6:n.2527+1164G>A | |
| NM_000090.3:c.2824-57G>A , LRG_3t1:c.2824-57G>A | NP_000081.1:n.2824-57G>A | |
| NM_000090.4:c.2824-57G>A MANE Select | NP_000081.2:n.2824-57G>A |