Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122077339A>C , CM000667.2:g.122077339A>C | GRCh38 |
| NC_000005.9:g.121413034A>C , CM000667.1:g.121413034A>C | GRCh37 |
| NC_000005.8:g.121440933A>C | NCBI36 |
| NG_008722.1:g.6022T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231004.5:c.631+16T>G MANE Select | ENSP00000231004.4:n.631+16T>G | |
| ENST00000639739.2:c.631+16T>G | ENSP00000492324.2:n.631+16T>G | |
| ENST00000231004.4:c.631+16T>G | ENSP00000231004.4:n.631+16T>G | |
| ENST00000508067.1:c.118+16T>G | ENSP00000427538.1:n.118+16T>G | |
| NM_002317.5:c.631+16T>G | NP_002308.2:n.631+16T>G | |
| NM_002317.6:c.631+16T>G | NP_002308.2:n.631+16T>G | |
| NM_002317.7:c.631+16T>G MANE Select | NP_002308.2:n.631+16T>G |