Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17357997A>G , CM000678.2:g.17357997A>G | GRCh38 |
| NC_000016.9:g.17451854A>G , CM000678.1:g.17451854A>G | GRCh37 |
| NC_000016.8:g.17359355A>G | NCBI36 |
| NG_015843.1:g.117885T>C | |
| NG_015843.2:g.117885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.402+15T>C MANE Select | ENSP00000261381.6:n.402+15T>C | |
| ENST00000261381.6:c.402+15T>C | ENSP00000261381.6:n.402+15T>C | |
| ENST00000563403.1:n.171+15T>C | ||
| ENST00000568226.5:n.95+15T>C | ||
| NM_022166.3:c.402+15T>C | NP_071449.1:n.402+15T>C | |
| XM_011522574.1:c.402+15T>C | XP_011520876.1:n.402+15T>C | |
| XM_017023539.2:c.402+15T>C | XP_016879028.1:n.402+15T>C | |
| XM_017023540.2:c.402+15T>C | XP_016879029.1:n.402+15T>C | |
| NM_022166.4:c.402+15T>C MANE Select | NP_071449.1:n.402+15T>C |