gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.411064A>T , CM000668.2:g.411064A>T | GRCh38 |
| NC_000006.11:g.411064A>T , CM000668.1:g.411064A>T | GRCh37 |
| NC_000006.10:g.356064A>T | NCBI36 |
| NG_027728.1:g.24326A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380956.9:c.*3466A>T MANE Select | ENSP00000370343.4:n.*3466A>T | |
| ENST00000380956.8:c.*3466A>T | ENSP00000370343.4:n.*3466A>T | |
| NM_001195286.1:c.*3466A>T | NP_001182215.1:n.*3466A>T | |
| NM_002460.3:c.*3466A>T | NP_002451.2:n.*3466A>T | |
| NR_046000.2:n.5079A>T | ||
| XM_006715090.1:c.*3466A>T | XP_006715153.1:n.*3466A>T | |
| XM_006715090.2:c.*3466A>T | XP_006715153.1:n.*3466A>T | |
| NM_002460.4:c.*3466A>T MANE Select | NP_002451.2:n.*3466A>T | |
| NM_001195286.2:c.*3466A>T | NP_001182215.1:n.*3466A>T | |
| NR_046000.3:n.5066A>T |