Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204165394G= , CM000663.2:g.204165394G= | GRCh38 |
| NC_000001.10:g.204134522G= , CM000663.1:g.204134522G= | GRCh37 |
| NC_000001.9:g.202401145G= | NCBI36 |
| NG_012122.1:g.5944C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000537.4:c.98+802C= MANE Select | NP_000528.1:n.98+802C= |
| ENST00000272190.9:c.98+802C= MANE Select | ENSP00000272190.8:n.98+802C= |
| NM_000537.3:c.98+802C= | NP_000528.1:n.98+802C= |
| ENST00000272190.8:c.98+802C= | ENSP00000272190.8:n.98+802C= |
| ENST00000638118.1:c.-16-3231C= | ENSP00000490307.1:n.-16-3231C= |