gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59836421A>T , CM000673.2:g.59836421A>T | GRCh38 |
| NC_000011.9:g.59603894A>T , CM000673.1:g.59603894A>T | GRCh37 |
| NC_000011.8:g.59360470A>T | NCBI36 |
| NG_008120.1:g.14081T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.872-412T>A MANE Select | ENSP00000257248.2:n.872-412T>A | |
| ENST00000257248.2:c.872-412T>A | ENSP00000257248.2:n.872-412T>A | |
| ENST00000525058.5:c.*839-412T>A | ENSP00000433196.1:n.*839-412T>A | |
| ENST00000533847.1:n.524-412T>A | ||
| NM_005142.2:c.872-412T>A | NP_005133.2:n.872-412T>A | |
| XM_011544939.1:c.830-412T>A | XP_011543241.1:n.830-412T>A | |
| XM_011544939.3:c.830-412T>A | XP_011543241.1:n.830-412T>A | |
| NM_005142.3:c.872-412T>A MANE Select | NP_005133.2:n.872-412T>A |