Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714249C>A , CM000681.2:g.6714249C>A | GRCh38 |
| NC_000019.9:g.6714260C>A , CM000681.1:g.6714260C>A | GRCh37 |
| NC_000019.8:g.6665260C>A | NCBI36 |
| NG_009557.1:g.11403G>T , LRG_27:g.11403G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.600-1G>T MANE Select | NP_000055.2:n.600-1G>T |
| ENST00000245907.11:c.600-1G>T MANE Select | ENSP00000245907.4:n.600-1G>T |
| NM_000064.3:c.600-1G>T | NP_000055.2:n.600-1G>T |
| ENST00000245907.10:c.600-1G>T | ENSP00000245907.4:n.600-1G>T |
| ENST00000595577.1:n.103G>T | |
| ENST00000695652.1:c.477-1G>T | ENSP00000512083.1:n.477-1G>T |