Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38683006T>C , CM000668.2:g.38683006T>C | GRCh38 |
| NC_000006.11:g.38650782T>C , CM000668.1:g.38650782T>C | GRCh37 |
| NC_000006.10:g.38758760T>C | NCBI36 |
| NG_012074.1:g.25171A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-131A>G MANE Select | ENSP00000362463.3:n.309-131A>G | |
| ENST00000373365.4:c.309-131A>G | ENSP00000362463.3:n.309-131A>G | |
| ENST00000470973.1:n.210A>G | ||
| NM_006708.2:c.309-131A>G | NP_006699.2:n.309-131A>G | |
| NM_006708.3:c.309-131A>G MANE Select | NP_006699.2:n.309-131A>G |