Linked Data
ClinVar Variation Id:
2383422
ClinVar RCV Id:
RCV002703569
dbSNP Id:
rs745863104
ExAC:
6:154360706 C / A
gnomAD v2:
6-154360706-C-A
gnomAD v3:
6-154039571-C-A
gnomAD v4:
6-154039571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039571C>A , CM000668.2:g.154039571C>A | GRCh38 |
| NC_000006.11:g.154360706C>A , CM000668.1:g.154360706C>A | GRCh37 |
| NC_000006.10:g.154402399C>A | NCBI36 |
| NG_021208.1:g.34071C>A | |
| NG_021208.2:g.34071C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.27C>A MANE Select | ENSP00000328264.7:p.Asn9Lys | |
| ENST00000229768.9:c.27C>A | ENSP00000229768.5:p.Asn9Lys | |
| ENST00000330432.11:c.27C>A | ENSP00000328264.7:p.Asn9Lys | |
| ENST00000337049.8:c.27C>A | ENSP00000338381.4:p.Asn9Lys | |
| ENST00000360422.8:c.213C>A | ENSP00000353598.5:p.Asn71Lys | |
| ENST00000414028.6:c.27C>A | ENSP00000399359.2:p.Asn9Lys | |
| ENST00000419506.6:c.27C>A | ENSP00000403549.2:p.Asn9Lys | |
| ENST00000428397.6:c.27C>A | ENSP00000411903.2:p.Asn9Lys | |
| ENST00000434900.6:c.306C>A | ENSP00000394624.2:p.Asn102Lys | |
| ENST00000435918.6:c.27C>A | ENSP00000413752.2:p.Asn9Lys | |
| ENST00000452687.6:c.27C>A | ENSP00000410497.2:p.Asn9Lys | |
| ENST00000518759.5:c.47+29012C>A | ENSP00000430260.1:n.47+29012C>A | |
| ENST00000519083.5:c.27C>A | ENSP00000431048.1:p.Asn9Lys | |
| ENST00000520282.5:c.171C>A | ENSP00000430247.1:p.Asn57Lys | |
| ENST00000520708.5:c.-11+28553C>A | ENSP00000430876.1:n.-11+28553C>A | |
| ENST00000522739.5:c.27C>A | ENSP00000428018.1:p.Asn9Lys | |
| ENST00000523520.1:n.208C>A | ||
| ENST00000524150.2:c.27C>A | ENSP00000430575.1:p.Asn9Lys | |
| ENST00000524163.5:c.27C>A | ENSP00000430097.1:p.Asn9Lys | |
| NM_000914.4:c.27C>A | NP_000905.3:p.Asn9Lys | |
| NM_001008503.2:c.27C>A | NP_001008503.2:p.Asn9Lys | |
| NM_001008504.3:c.27C>A | NP_001008504.2:p.Asn9Lys | |
| NM_001008505.2:c.27C>A | NP_001008505.2:p.Asn9Lys | |
| NM_001145279.3:c.306C>A | NP_001138751.1:p.Asn102Lys | |
| NM_001145280.3:c.-11+28553C>A | NP_001138752.1:n.-11+28553C>A | |
| NM_001145281.2:c.47+29012C>A | NP_001138753.1:n.47+29012C>A | |
| NM_001145282.2:c.27C>A | NP_001138754.1:p.Asn9Lys | |
| NM_001145283.2:c.27C>A | NP_001138755.1:p.Asn9Lys | |
| NM_001145284.3:c.27C>A | NP_001138756.1:p.Asn9Lys | |
| NM_001145285.2:c.27C>A | NP_001138757.1:p.Asn9Lys | |
| NM_001145286.2:c.27C>A | NP_001138758.1:p.Asn9Lys | |
| NM_001285522.1:c.27C>A | NP_001272451.1:p.Asn9Lys | |
| NM_001285523.1:c.27C>A | NP_001272452.1:p.Asn9Lys | |
| NM_001285524.1:c.306C>A | NP_001272453.1:p.Asn102Lys | |
| NR_104348.1:n.161C>A | ||
| NR_104349.1:n.161C>A | ||
| NR_104350.1:n.161C>A | ||
| NR_104351.1:n.161C>A | ||
| XM_006715497.2:c.213C>A | XP_006715560.1:p.Asn71Lys | |
| XM_011535849.1:c.306C>A | XP_011534151.1:p.Asn102Lys | |
| NM_001285523.2:c.27C>A | NP_001272452.1:p.Asn9Lys | |
| XM_017010907.2:c.213C>A | XP_016866396.1:p.Asn71Lys | |
| NM_000914.5:c.27C>A MANE Select | NP_000905.3:p.Asn9Lys | |
| NM_001008503.3:c.27C>A | NP_001008503.2:p.Asn9Lys | |
| NM_001008504.4:c.27C>A | NP_001008504.2:p.Asn9Lys | |
| NM_001145279.4:c.306C>A | NP_001138751.1:p.Asn102Lys | |
| NM_001145280.4:c.-11+28553C>A | NP_001138752.1:n.-11+28553C>A | |
| NM_001145281.3:c.47+29012C>A | NP_001138753.1:n.47+29012C>A | |
| NM_001145285.3:c.27C>A | NP_001138757.1:p.Asn9Lys | |
| NM_001145286.3:c.27C>A | NP_001138758.1:p.Asn9Lys | |
| NM_001285523.3:c.27C>A | NP_001272452.1:p.Asn9Lys |