gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150176995T>G , CM000667.2:g.150176995T>G | GRCh38 |
| NC_000005.9:g.149556558T>G , CM000667.1:g.149556558T>G | GRCh37 |
| NC_000005.8:g.149536751T>G | NCBI36 |
| NG_046970.1:g.15215T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231656.13:c.446-5773T>G MANE Select | ENSP00000231656.7:n.446-5773T>G | |
| ENST00000231656.12:c.446-5773T>G | ENSP00000231656.7:n.446-5773T>G | |
| ENST00000616154.1:c.113-5773T>G | ENSP00000477928.1:n.113-5773T>G | |
| NM_001804.2:c.446-5773T>G | NP_001795.2:n.446-5773T>G | |
| NM_001804.3:c.446-5773T>G MANE Select | NP_001795.2:n.446-5773T>G |