Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477417C>A , CM000667.2:g.154477417C>A | GRCh38 |
| NC_000005.9:g.153856977C>A , CM000667.1:g.153856977C>A | GRCh37 |
| NC_000005.8:g.153837170C>A | NCBI36 |
| NG_052889.1:g.5848G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004821.3:c.543+49G>T MANE Select | NP_004812.1:n.543+49G>T |
| ENST00000231121.3:c.543+49G>T MANE Select | ENSP00000231121.2:n.543+49G>T |
| NM_004821.2:c.543+49G>T | NP_004812.1:n.543+49G>T |
| ENST00000231121.2:c.543+49G>T | ENSP00000231121.2:n.543+49G>T |
| XM_005268531.1:c.543+49G>T | XP_005268588.1:n.543+49G>T |