Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160541471T>C , CM000668.2:g.160541471T>C | GRCh38 |
| NC_000006.11:g.160962503T>C , CM000668.1:g.160962503T>C | GRCh37 |
| NC_000006.10:g.160882493T>C | NCBI36 |
| NG_016147.1:g.129905A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005577.4:c.5520-290A>G MANE Select | NP_005568.2:n.5520-290A>G |
| ENST00000316300.10:c.5520-290A>G MANE Select | ENSP00000321334.6:n.5520-290A>G |
| NM_005577.2:c.5520-290A>G | NP_005568.2:n.5520-290A>G |
| NM_005577.3:c.5520-290A>G | NP_005568.2:n.5520-290A>G |
| ENST00000316300.9:c.5520-290A>G | ENSP00000321334.5:n.5520-290A>G |