gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125438301A>T , CM000666.2:g.125438301A>T | GRCh38 |
| NC_000004.11:g.126359456A>T , CM000666.1:g.126359456A>T | GRCh37 |
| NC_000004.10:g.126578906A>T | NCBI36 |
| NG_033865.1:g.126890A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.7199+3876A>T MANE Select | ENSP00000377862.4:n.7199+3876A>T | |
| ENST00000674496.2:c.1970+3876A>T | ENSP00000501473.2:n.1970+3876A>T | |
| ENST00000335110.5:c.2093+3876A>T | ENSP00000335169.5:n.2093+3876A>T | |
| ENST00000394329.7:c.7199+3876A>T | ENSP00000377862.3:n.7199+3876A>T | |
| NM_001291285.1:c.7199+3876A>T | NP_001278214.1:n.7199+3876A>T | |
| NM_001291303.1:c.7199+3876A>T | NP_001278232.1:n.7199+3876A>T | |
| NM_024582.4:c.7199+3876A>T | NP_078858.4:n.7199+3876A>T | |
| XM_011532236.1:c.7199+3876A>T | XP_011530538.1:n.7199+3876A>T | |
| XM_011532237.1:c.1970+3876A>T | XP_011530539.1:n.1970+3876A>T | |
| XM_011532236.2:c.7199+3876A>T | XP_011530538.1:n.7199+3876A>T | |
| XM_011532237.2:c.1970+3876A>T | XP_011530539.1:n.1970+3876A>T | |
| NM_001291285.2:c.7199+3876A>T | NP_001278214.1:n.7199+3876A>T | |
| NM_001291303.3:c.7199+3876A>T MANE Select | NP_001278232.1:n.7199+3876A>T | |
| NM_024582.5:c.7199+3876A>T | NP_078858.4:n.7199+3876A>T | |
| NM_001291285.3:c.7199+3876A>T | NP_001278214.1:n.7199+3876A>T | |
| NM_024582.6:c.7199+3876A>T | NP_078858.4:n.7199+3876A>T |