Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122077336C>A , CM000667.2:g.122077336C>A | GRCh38 |
| NC_000005.9:g.121413031C>A , CM000667.1:g.121413031C>A | GRCh37 |
| NC_000005.8:g.121440930C>A | NCBI36 |
| NG_008722.1:g.6025G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002317.7:c.631+19G>T MANE Select | NP_002308.2:n.631+19G>T |
| ENST00000231004.5:c.631+19G>T MANE Select | ENSP00000231004.4:n.631+19G>T |
| NM_002317.5:c.631+19G>T | NP_002308.2:n.631+19G>T |
| NM_002317.6:c.631+19G>T | NP_002308.2:n.631+19G>T |
| ENST00000231004.4:c.631+19G>T | ENSP00000231004.4:n.631+19G>T |
| ENST00000508067.1:c.118+19G>T | ENSP00000427538.1:n.118+19G>T |
| ENST00000639739.2:c.631+19G>T | ENSP00000492324.2:n.631+19G>T |