Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500125G= , CM000668.2:g.35500125G= | GRCh38 |
| NC_000006.11:g.35467902G= , CM000668.1:g.35467902G= | GRCh37 |
| NC_000006.10:g.35575880G= | NCBI36 |
| NG_009077.1:g.17746C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1351C= MANE Select | ENSP00000229771.6:p.Gln451= | |
| ENST00000229771.10:c.1351C= | ENSP00000229771.6:p.Gln451= | |
| ENST00000322263.8:c.1192C= | ENSP00000319414.4:p.Gln398= | |
| ENST00000495781.1:n.527C= | ||
| ENST00000614066.4:c.1345C= | ENSP00000477534.1:p.Gln449= | |
| NM_001289395.1:c.1192C= | NP_001276324.1:p.Gln398= | |
| NM_003322.4:c.1351C= | NP_003313.3:p.Gln451= | |
| NM_003322.5:c.1351C= | NP_003313.3:p.Gln451= | |
| NM_003322.6:c.1351C= MANE Select | NP_003313.3:p.Gln451= | |
| NM_001289395.2:c.1192C= | NP_001276324.1:p.Gln398= |