Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536671T>C , CM000679.2:g.42536671T>C | GRCh38 |
| NC_000017.10:g.40688689T>C , CM000679.1:g.40688689T>C | GRCh37 |
| NC_000017.9:g.37942215T>C | NCBI36 |
| NG_011552.1:g.5739T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.383+16T>C MANE Select | ENSP00000225927.1:n.383+16T>C | |
| ENST00000225927.6:c.383+16T>C | ENSP00000225927.1:n.383+16T>C | |
| ENST00000586516.5:c.133+16T>C | ||
| ENST00000591587.1:c.126+16T>C | ENSP00000467836.1:n.126+16T>C | |
| NM_000263.3:c.383+16T>C | NP_000254.2:n.383+16T>C | |
| XM_006721920.2:c.-360+16T>C | XP_006721983.1:n.-360+16T>C | |
| XM_011524840.1:c.-360+16T>C | XP_011523142.1:n.-360+16T>C | |
| XM_024450771.1:c.383+16T>C | XP_024306539.1:n.383+16T>C | |
| NM_000263.4:c.383+16T>C MANE Select | NP_000254.2:n.383+16T>C |