gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89180495A>T , CM000673.2:g.89180495A>T | GRCh38 |
| NC_000011.9:g.88913663A>T , CM000673.1:g.88913663A>T | GRCh37 |
| NC_000011.8:g.88553311A>T | NCBI36 |
| NG_008748.1:g.7624A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.819+1723A>T MANE Select | ENSP00000263321.4:n.819+1723A>T | |
| ENST00000263321.5:c.819+1723A>T | ENSP00000263321.4:n.819+1723A>T | |
| ENST00000526139.1:n.880+1723A>T | ||
| NM_000372.4:c.819+1723A>T | NP_000363.1:n.819+1723A>T | |
| XM_011542970.1:c.819+1723A>T | XP_011541272.1:n.819+1723A>T | |
| XM_011542970.2:c.819+1723A>T | XP_011541272.1:n.819+1723A>T | |
| XR_001748321.1:n.2718-66962T>A | ||
| XR_001748322.1:n.2733-66962T>A | ||
| NM_000372.5:c.819+1723A>T MANE Select | NP_000363.1:n.819+1723A>T |