Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21679464C>T , CM000678.2:g.21679464C>T | GRCh38 |
| NC_000016.9:g.21690785C>T , CM000678.1:g.21690785C>T | GRCh37 |
| NC_000016.8:g.21598286C>T | NCBI36 |
| NG_012973.1:g.5951C>T | |
| NG_012973.2:g.20332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.179+253C>T | ENSP00000373610.3:n.179+253C>T | |
| ENST00000646100.2:c.179+253C>T MANE Select | ENSP00000496564.2:n.179+253C>T | |
| ENST00000647277.1:c.179+253C>T | ENSP00000495594.1:n.179+253C>T | |
| ENST00000286149.8:c.179+253C>T | ENSP00000286149.4:n.179+253C>T | |
| ENST00000388958.7:c.179+253C>T | ENSP00000373610.3:n.179+253C>T | |
| NM_144672.3:c.179+253C>T | NP_653273.3:n.179+253C>T | |
| XM_011545747.1:c.179+253C>T | XP_011544049.1:n.179+253C>T | |
| NM_144672.4:c.179+253C>T MANE Select | NP_653273.3:n.179+253C>T |