Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147200321C>A , CM000669.2:g.147200321C>A | GRCh38 |
| NC_000007.13:g.146897413C>A , CM000669.1:g.146897413C>A | GRCh37 |
| NC_000007.12:g.146528346C>A | NCBI36 |
| NG_007092.2:g.1088961C>A | |
| NG_007092.3:g.1089321C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1348+67812C>A MANE Select | ENSP00000354778.3:n.1348+67812C>A | |
| ENST00000636870.1:n.1210+67812C>A | ||
| ENST00000637694.1:n.1251+67812C>A | ||
| ENST00000637825.1:n.831+67812C>A | ||
| ENST00000638117.1:n.1251+67812C>A | ||
| ENST00000361727.7:c.1348+67812C>A | ENSP00000354778.3:n.1348+67812C>A | |
| NM_014141.5:c.1348+67812C>A | NP_054860.1:n.1348+67812C>A | |
| XM_017011950.2:c.1348+67812C>A | XP_016867439.1:n.1348+67812C>A | |
| NM_014141.6:c.1348+67812C>A MANE Select | NP_054860.1:n.1348+67812C>A |