Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160553565C>A , CM000668.2:g.160553565C>A | GRCh38 |
| NC_000006.11:g.160974597C>A , CM000668.1:g.160974597C>A | GRCh37 |
| NC_000006.10:g.160894587C>A | NCBI36 |
| NG_016147.1:g.117811G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.4973+2460G>T MANE Select | ENSP00000321334.6:n.4973+2460G>T | |
| ENST00000316300.9:c.4973+2460G>T | ENSP00000321334.5:n.4973+2460G>T | |
| NM_005577.2:c.4973+2460G>T | NP_005568.2:n.4973+2460G>T | |
| NM_005577.3:c.4973+2460G>T | NP_005568.2:n.4973+2460G>T | |
| NM_005577.4:c.4973+2460G>T MANE Select | NP_005568.2:n.4973+2460G>T |