Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352581C>T , CM000685.2:g.38352581C>T | GRCh38 |
| NC_000023.10:g.38211834C>T , CM000685.1:g.38211834C>T | GRCh37 |
| NC_000023.9:g.38096778C>T | NCBI36 |
| NG_008471.1:g.5099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.4:c.-116C>T | ENSP00000039007.4:n.-116C>T | |
| ENST00000465127.1:c.172-313540C>T | ENSP00000417050.1:n.172-313540C>T | |
| NM_000531.5:c.-116C>T | NP_000522.3:n.-116C>T | |
| XM_017029556.1:c.-116C>T | XP_016885045.1:n.-116C>T |