Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713764A>T , CM000681.2:g.6713764A>T | GRCh38 |
| NC_000019.9:g.6713775A>T , CM000681.1:g.6713775A>T | GRCh37 |
| NC_000019.8:g.6664775A>T | NCBI36 |
| NG_009557.1:g.11888T>A , LRG_27:g.11888T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+228T>A | ENSP00000512083.1:n.650+228T>A | |
| ENST00000245907.11:c.773+228T>A MANE Select | ENSP00000245907.4:n.773+228T>A | |
| ENST00000245907.10:c.773+228T>A | ENSP00000245907.4:n.773+228T>A | |
| ENST00000595577.1:n.277+228T>A | ||
| ENST00000597442.5:n.23+2T>A | ||
| NM_000064.3:c.773+228T>A | NP_000055.2:n.773+228T>A | |
| NM_000064.4:c.773+228T>A MANE Select | NP_000055.2:n.773+228T>A |