Linked Data
ClinVar Variation Id:
1557343
ClinVar RCV Id:
RCV002188256
dbSNP Id:
rs137919558
ExAC:
17:7126061 A / G
gnomAD v2:
17-7126061-A-G
gnomAD v3:
17-7222742-A-G
gnomAD v4:
17-7222742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222742A>G , CM000679.2:g.7222742A>G | GRCh38 |
| NC_000017.10:g.7126061A>G , CM000679.1:g.7126061A>G | GRCh37 |
| NC_000017.9:g.7066785A>G | NCBI36 |
| NG_007975.1:g.7909A>G | |
| NG_008391.2:g.2309T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.954A>G MANE Select | ENSP00000349297.5:p.Pro318= | |
| ENST00000322910.9:c.*909A>G | ENSP00000325395.5:n.*909A>G | |
| ENST00000350303.9:c.888A>G | ENSP00000344152.5:p.Pro296= | |
| ENST00000356839.9:c.954A>G | ENSP00000349297.5:p.Pro318= | |
| ENST00000543245.6:c.1023A>G | ENSP00000438689.2:p.Pro341= | |
| ENST00000578824.5:n.103A>G | ||
| ENST00000581378.5:c.672A>G | ||
| ENST00000582379.1:n.338A>G | ||
| NM_000018.3:c.954A>G | NP_000009.1:p.Pro318= | |
| NM_001033859.2:c.888A>G | NP_001029031.1:p.Pro296= | |
| NM_001270447.1:c.1023A>G | NP_001257376.1:p.Pro341= | |
| NM_001270448.1:c.726A>G | NP_001257377.1:p.Pro242= | |
| XM_006721516.2:c.954A>G | XP_006721579.2:p.Pro318= | |
| XM_011523829.1:c.954A>G | XP_011522131.1:p.Pro318= | |
| XM_011523830.1:c.954A>G | XP_011522132.1:p.Pro318= | |
| XR_934021.1:n.1061A>G | ||
| XR_934022.1:n.1061A>G | ||
| XR_934023.1:n.1061A>G | ||
| XM_006721516.3:c.954A>G | XP_006721579.2:p.Pro318= | |
| XM_011523829.2:c.954A>G | XP_011522131.1:p.Pro318= | |
| XM_011523830.2:c.954A>G | XP_011522132.1:p.Pro318= | |
| XM_024450741.1:c.954A>G | XP_024306509.1:p.Pro318= | |
| XR_934021.2:n.1013A>G | ||
| XR_934022.2:n.1013A>G | ||
| XR_934023.2:n.1013A>G | ||
| NM_000018.4:c.954A>G MANE Select | NP_000009.1:p.Pro318= | |
| NM_001033859.3:c.888A>G | NP_001029031.1:p.Pro296= | |
| NM_001270447.2:c.1023A>G | NP_001257376.1:p.Pro341= | |
| NM_001270448.2:c.726A>G | NP_001257377.1:p.Pro242= |