gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72054562A>G , CM000678.2:g.72054562A>G | GRCh38 |
| NC_000016.9:g.72088461A>G , CM000678.1:g.72088461A>G | GRCh37 |
| NC_000016.8:g.70645962A>G | NCBI36 |
| NG_012651.1:g.4954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355906.10:c.-91A>G (HP) MANE Select | ENSP00000348170.5:n.-91A>G | |
| ENST00000562153.5:c.285-10205T>C (TXNL4B) | ENSP00000454635.1:n.285-10205T>C | |
| XM_017023377.2:c.285-10205T>C (TXNL4B) | XP_016878866.1:n.285-10205T>C | |
| NM_001318138.2:c.-91A>G (HP) | NP_001305067.1:n.-91A>G | |
| NM_005143.5:c.-91A>G (HP) MANE Select | NP_005134.1:n.-91A>G | |
| NM_001126102.3:c.-91A>G (HP) | NP_001119574.1:n.-91A>G |