Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357977G>T , CM000678.2:g.81357977G>T | GRCh38 |
| NC_000016.9:g.81391582G>T , CM000678.1:g.81391582G>T | GRCh37 |
| NC_000016.8:g.79949083G>T | NCBI36 |
| NG_009007.1:g.48012G>T , LRG_242:g.48012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*681+46G>T | ENSP00000498114.1:n.*681+46G>T | |
| ENST00000648994.2:c.973+46G>T MANE Select | ENSP00000497351.1:n.973+46G>T | |
| ENST00000650388.1:c.507+46G>T | ENSP00000498081.1:n.507+46G>T | |
| ENST00000568107.2:c.973+46G>T | ENSP00000476795.1:n.973+46G>T | |
| NM_022041.3:c.973+46G>T , LRG_242t1:c.973+46G>T | NP_071324.1:n.973+46G>T | |
| XM_017023734.1:c.334+46G>T | XP_016879223.1:n.334+46G>T | |
| NM_001377486.1:c.334+46G>T | NP_001364415.1:n.334+46G>T | |
| NM_022041.4:c.973+46G>T MANE Select | NP_071324.1:n.973+46G>T |