Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28161924A>T , CM000668.2:g.28161924A>T | GRCh38 |
| NC_000006.11:g.28129702A>T , CM000668.1:g.28129702A>T | GRCh37 |
| NC_000006.10:g.28237681A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562227.2:n.53+103A>T | ||
| ENST00000440790.6:n.41+103A>T | ||
| ENST00000570126.1:n.30+103A>T | ||
| NR_103448.1:n.61+103A>T |