Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849509C>A , CM000681.2:g.35849509C>A | GRCh38 |
| NC_000019.9:g.36340411C>A , CM000681.1:g.36340411C>A | GRCh37 |
| NC_000019.8:g.41032251C>A | NCBI36 |
| NG_013356.2:g.24779G>T , LRG_693:g.24779G>T | |
| NG_051206.1:g.2875C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.712+41G>T MANE Select | ENSP00000368190.4:n.712+41G>T | |
| ENST00000353632.6:c.712+41G>T | ENSP00000343634.5:n.712+41G>T | |
| ENST00000378910.9:c.712+41G>T | ENSP00000368190.4:n.712+41G>T | |
| NM_004646.3:c.712+41G>T , LRG_693t1:c.712+41G>T | NP_004637.1:n.712+41G>T | |
| NM_004646.4:c.712+41G>T MANE Select | NP_004637.1:n.712+41G>T |