gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44873027C>T , CM000681.2:g.44873027C>T | GRCh38 |
| NC_000019.9:g.45376284C>T , CM000681.1:g.45376284C>T | GRCh37 |
| NC_000019.8:g.50068124C>T | NCBI36 |
| NG_029149.1:g.31892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252483.10:c.775+878C>T MANE Select | ENSP00000252483.4:n.775+878C>T | |
| ENST00000252483.9:c.775+878C>T | ENSP00000252483.4:n.775+878C>T | |
| ENST00000252485.8:c.775+878C>T | ENSP00000252485.3:n.775+878C>T | |
| ENST00000591581.1:c.297+878C>T | ||
| NM_001042724.1:c.775+878C>T | NP_001036189.1:n.775+878C>T | |
| NM_002856.2:c.775+878C>T | NP_002847.1:n.775+878C>T | |
| XM_011527192.1:c.775+878C>T | XP_011525494.1:n.775+878C>T | |
| NM_001042724.2:c.775+878C>T MANE Select | NP_001036189.1:n.775+878C>T | |
| NM_002856.3:c.775+878C>T | NP_002847.1:n.775+878C>T |