Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160597142C>T , CM000668.2:g.160597142C>T | GRCh38 |
| NC_000006.11:g.161018174C>T , CM000668.1:g.161018174C>T | GRCh37 |
| NC_000006.10:g.160938164C>T | NCBI36 |
| NG_016147.1:g.74234G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005577.4:c.3288-1607G>A MANE Select | NP_005568.2:n.3288-1607G>A |
| ENST00000316300.10:c.3288-1607G>A MANE Select | ENSP00000321334.6:n.3288-1607G>A |
| NM_005577.2:c.3288-1607G>A | NP_005568.2:n.3288-1607G>A |
| NM_005577.3:c.3288-1607G>A | NP_005568.2:n.3288-1607G>A |
| ENST00000316300.9:c.3288-1607G>A | ENSP00000321334.5:n.3288-1607G>A |
| ENST00000447678.2:c.1029-1607G>A | ENSP00000395608.2:n.1029-1607G>A |