Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160553650A>C , CM000668.2:g.160553650A>C | GRCh38 |
| NC_000006.11:g.160974682A>C , CM000668.1:g.160974682A>C | GRCh37 |
| NC_000006.10:g.160894672A>C | NCBI36 |
| NG_016147.1:g.117726T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.4973+2375T>G MANE Select | ENSP00000321334.6:n.4973+2375T>G | |
| ENST00000316300.9:c.4973+2375T>G | ENSP00000321334.5:n.4973+2375T>G | |
| NM_005577.2:c.4973+2375T>G | NP_005568.2:n.4973+2375T>G | |
| NM_005577.3:c.4973+2375T>G | NP_005568.2:n.4973+2375T>G | |
| NM_005577.4:c.4973+2375T>G MANE Select | NP_005568.2:n.4973+2375T>G |