Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98580709G= , CM000665.2:g.98580709G= | GRCh38 |
| NC_000003.11:g.98299553G= , CM000665.1:g.98299553G= | GRCh37 |
| NC_000003.10:g.99782243G= | NCBI36 |
| NG_015994.1:g.17903C= | |
| NG_015994.2:g.17903C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512905.6:c.163+698C= | ||
| ENST00000647941.2:c.1339C= MANE Select | ENSP00000497326.1:p.Arg447= | |
| ENST00000264193.2:c.1339C= | ENSP00000264193.2:p.Arg447= | |
| ENST00000512905.5:c.163+698C= | ||
| NM_000097.5:c.1339C= | NP_000088.3:p.Arg447= | |
| XM_005247125.3:c.1173-2439C= | XP_005247182.1:n.1173-2439C= | |
| NM_000097.7:c.1339C= MANE Select | NP_000088.3:p.Arg447= | |
| XM_005247125.4:c.1173-2439C= | XP_005247182.1:n.1173-2439C= | |
| XR_001740025.2:n.1344-2439C= | ||
| XR_001740026.1:n.2074C= | ||
| XR_001740027.1:n.1614C= | ||
| XR_001740028.1:n.1580C= |