gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59843998G>T , CM000673.2:g.59843998G>T | GRCh38 |
| NC_000011.9:g.59611471G>T , CM000673.1:g.59611471G>T | GRCh37 |
| NC_000011.8:g.59368047G>T | NCBI36 |
| NG_008120.1:g.6504C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.137C>A MANE Select | ENSP00000257248.2:p.Ser46Ter | |
| ENST00000257248.2:c.137C>A | ENSP00000257248.2:p.Ser46Ter | |
| ENST00000525058.5:c.*104C>A | ENSP00000433196.1:n.*104C>A | |
| ENST00000532070.1:n.183C>A | ||
| NM_005142.2:c.137C>A | NP_005133.2:p.Ser46Ter | |
| XM_011544939.1:c.137C>A | XP_011543241.1:p.Ser46Ter | |
| XM_011544939.3:c.137C>A | XP_011543241.1:p.Ser46Ter | |
| NM_005142.3:c.137C>A MANE Select | NP_005133.2:p.Ser46Ter |