ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00012017 (EAS)
Exomes Max Group AF
0.00013866 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96321942C>T , CM000669.2:g.96321942C>T | GRCh38 |
| NC_000007.13:g.95951254C>T , CM000669.1:g.95951254C>T | GRCh37 |
| NC_000007.12:g.95789190C>T | NCBI36 |
| NG_012247.1:g.5206G>A | |
| NG_012247.2:g.5206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.15G>A MANE Select | ENSP00000265631.6:p.Lys5= | |
| ENST00000265631.9:c.15G>A | ENSP00000265631.5:p.Lys5= | |
| ENST00000416240.6:c.15G>A | ENSP00000400101.2:p.Lys5= | |
| ENST00000472162.2:c.15G>A | ENSP00000473505.1:p.Lys5= | |
| NM_001160210.1:c.15G>A | NP_001153682.1:p.Lys5= | |
| NM_014251.2:c.15G>A | NP_055066.1:p.Lys5= | |
| NR_027662.1:n.206G>A | ||
| XM_011515727.3:c.-107G>A | XP_011514029.1:n.-107G>A | |
| XM_017011664.2:c.-744G>A | XP_016867153.1:n.-744G>A | |
| XM_017011665.1:c.-628G>A | XP_016867154.1:n.-628G>A | |
| XR_001744525.2:n.186G>A | ||
| XR_002956405.1:n.174G>A | ||
| NM_014251.3:c.15G>A MANE Select | NP_055066.1:p.Lys5= | |
| NR_027662.2:n.157G>A | ||
| NM_001160210.2:c.15G>A | NP_001153682.1:p.Lys5= |