gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14566506 (NFE)
Genomes Max Group AF
0.14566506 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.668465C>T , CM000680.2:g.668465C>T | GRCh38 |
| NC_000018.9:g.668465C>T , CM000680.1:g.668465C>T | GRCh37 |
| NC_000018.8:g.658465C>T | NCBI36 |
| NG_028255.1:g.15862C>T , LRG_783:g.15862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.455-607C>T MANE Select | ENSP00000315644.10:n.455-607C>T | |
| ENST00000323224.7:c.455-2227C>T | ENSP00000314727.7:n.455-2227C>T | |
| ENST00000323250.9:c.206-607C>T | ENSP00000314902.5:n.206-607C>T | |
| ENST00000323274.14:c.455-607C>T | ENSP00000315644.10:n.455-607C>T | |
| ENST00000579128.1:n.533-607C>T | ||
| ENST00000581920.1:n.33-607C>T | ||
| NM_001071.2:c.455-607C>T , LRG_783t1:c.455-607C>T | NP_001062.1:n.455-607C>T | |
| NM_001071.3:c.455-607C>T | NP_001062.1:n.455-607C>T | |
| NM_001354867.1:c.455-2227C>T | NP_001341796.1:n.455-2227C>T | |
| NM_001354868.1:c.206-607C>T | NP_001341797.1:n.206-607C>T | |
| XM_024451242.1:c.74-607C>T | XP_024307010.1:n.74-607C>T | |
| NM_001071.4:c.455-607C>T MANE Select | NP_001062.1:n.455-607C>T | |
| NM_001354867.2:c.455-2227C>T | NP_001341796.1:n.455-2227C>T | |
| NM_001354868.2:c.206-607C>T | NP_001341797.1:n.206-607C>T |