dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30786187A>T , CM000670.2:g.30786187A>T | GRCh38 |
| NC_000008.10:g.30643703A>T , CM000670.1:g.30643703A>T | GRCh37 |
| NC_000008.9:g.30763245A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221138.9:c.*48T>A MANE Select | ENSP00000221138.4:n.*48T>A | |
| ENST00000221138.8:c.*48T>A | ENSP00000221138.4:n.*48T>A | |
| ENST00000518532.1:n.488T>A | ||
| ENST00000518564.1:c.142-198T>A | ENSP00000428142.1:n.142-198T>A | |
| ENST00000522113.1:n.178T>A | ||
| ENST00000523023.1:c.181+24T>A | ||
| NM_001009552.1:c.*48T>A | NP_001009552.1:n.*48T>A | |
| NM_001009552.2:c.*48T>A MANE Select | NP_001009552.1:n.*48T>A |