Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531351C= , CM000680.2:g.31531351C= | GRCh38 |
| NC_000018.9:g.29111314C= , CM000680.1:g.29111314C= | GRCh37 |
| NC_000018.8:g.27365312C= | NCBI36 |
| NG_007072.3:g.38110C= , LRG_397:g.38110C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1210C= | ||
| ENST00000683614.1:c.1210C= | ||
| ENST00000261590.13:c.1280+99C= MANE Select | ENSP00000261590.8:n.1280+99C= | |
| ENST00000261590.12:c.1280+99C= | ENSP00000261590.8:n.1280+99C= | |
| NM_001943.3:c.1280+99C= , LRG_397t1:c.1280+99C= | NP_001934.2:n.1280+99C= | |
| NM_001943.4:c.1280+99C= | NP_001934.2:n.1280+99C= | |
| XM_024451095.1:c.746+99C= | XP_024306863.1:n.746+99C= | |
| NM_001943.5:c.1280+99C= MANE Select | NP_001934.2:n.1280+99C= |