Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30969021G>T , CM000669.2:g.30969021G>T | GRCh38 |
| NC_000007.13:g.31008636G>T , CM000669.1:g.31008636G>T | GRCh37 |
| NC_000007.12:g.30975161G>T | NCBI36 |
| NG_021416.1:g.10001G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.161-42G>T MANE Select | ENSP00000320180.2:n.161-42G>T | |
| ENST00000326139.6:c.161-42G>T | ENSP00000320180.2:n.161-42G>T | |
| NM_000823.3:c.161-42G>T | NP_000814.2:n.161-42G>T | |
| NM_000823.4:c.161-42G>T MANE Select | NP_000814.2:n.161-42G>T |