gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32440958A>G , CM000668.2:g.32440958A>G | GRCh38 |
| NC_000006.11:g.32408735A>G , CM000668.1:g.32408735A>G | GRCh37 |
| NC_000006.10:g.32516713A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.82+926A>G MANE Select | ENSP00000378786.2:n.82+926A>G | |
| ENST00000374982.5:c.82+926A>G | ENSP00000364121.5:n.82+926A>G | |
| ENST00000395388.6:c.82+926A>G | ENSP00000378786.2:n.82+926A>G | |
| NM_019111.4:c.82+926A>G | NP_061984.2:n.82+926A>G | |
| NM_019111.5:c.82+926A>G MANE Select | NP_061984.2:n.82+926A>G |