Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1296123C>A , CM000670.2:g.1296123C>A | GRCh38 |
| NC_000008.10:g.1244383C>A , CM000670.1:g.1244383C>A | GRCh37 |
| NC_000008.9:g.1231790C>A | NCBI36 |
| NG_009409.2:g.563405C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421627.7:c.103+37240C>A | ENSP00000400258.3:n.103+37240C>A | |
| ENST00000637795.2:c.106+37240C>A MANE Select | ENSP00000489774.1:n.106+37240C>A | |
| NR_111948.1:n.2960G>T | ||
| XM_011534761.1:c.-135+37240C>A | XP_011533063.1:n.-135+37240C>A | |
| XM_011534762.1:c.-135+37240C>A | XP_011533064.1:n.-135+37240C>A | |
| NM_001346810.1:c.106+37240C>A | NP_001333739.1:n.106+37240C>A | |
| NM_001346810.2:c.106+37240C>A MANE Select | NP_001333739.1:n.106+37240C>A |