Linked Data
ClinVar Variation Id:
557676
dbSNP Id:
rs149467828
ExAC:
17:7126063 C / A
gnomAD v2:
17-7126063-C-A
gnomAD v3:
17-7222744-C-A
gnomAD v4:
17-7222744-C-A
ERepo:
CA8337912/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222744C>A , CM000679.2:g.7222744C>A | GRCh38 |
| NC_000017.10:g.7126063C>A , CM000679.1:g.7126063C>A | GRCh37 |
| NC_000017.9:g.7066787C>A | NCBI36 |
| NG_007975.1:g.7911C>A | |
| NG_008391.2:g.2307G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.956C>A MANE Select | ENSP00000349297.5:p.Ser319Ter | |
| ENST00000322910.9:c.*911C>A | ENSP00000325395.5:n.*911C>A | |
| ENST00000350303.9:c.890C>A | ENSP00000344152.5:p.Ser297Ter | |
| ENST00000356839.9:c.956C>A | ENSP00000349297.5:p.Ser319Ter | |
| ENST00000543245.6:c.1025C>A | ENSP00000438689.2:p.Ser342Ter | |
| ENST00000578824.5:n.105C>A | ||
| ENST00000581378.5:c.674C>A | ||
| ENST00000582379.1:n.340C>A | ||
| NM_000018.3:c.956C>A | NP_000009.1:p.Ser319Ter | |
| NM_001033859.2:c.890C>A | NP_001029031.1:p.Ser297Ter | |
| NM_001270447.1:c.1025C>A | NP_001257376.1:p.Ser342Ter | |
| NM_001270448.1:c.728C>A | NP_001257377.1:p.Ser243Ter | |
| XM_006721516.2:c.956C>A | XP_006721579.2:p.Ser319Ter | |
| XM_011523829.1:c.956C>A | XP_011522131.1:p.Ser319Ter | |
| XM_011523830.1:c.956C>A | XP_011522132.1:p.Ser319Ter | |
| XR_934021.1:n.1063C>A | ||
| XR_934022.1:n.1063C>A | ||
| XR_934023.1:n.1063C>A | ||
| XM_006721516.3:c.956C>A | XP_006721579.2:p.Ser319Ter | |
| XM_011523829.2:c.956C>A | XP_011522131.1:p.Ser319Ter | |
| XM_011523830.2:c.956C>A | XP_011522132.1:p.Ser319Ter | |
| XM_024450741.1:c.956C>A | XP_024306509.1:p.Ser319Ter | |
| XR_934021.2:n.1015C>A | ||
| XR_934022.2:n.1015C>A | ||
| XR_934023.2:n.1015C>A | ||
| NM_000018.4:c.956C>A MANE Select | NP_000009.1:p.Ser319Ter | |
| NM_001033859.3:c.890C>A | NP_001029031.1:p.Ser297Ter | |
| NM_001270447.2:c.1025C>A | NP_001257376.1:p.Ser342Ter | |
| NM_001270448.2:c.728C>A | NP_001257377.1:p.Ser243Ter |