Linked Data
ClinVar Variation Id:
92293
dbSNP Id:
rs398123095
gnomAD v2:
17-7126057-T-C
gnomAD v3:
17-7222738-T-C
gnomAD v4:
17-7222738-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222738T>C , CM000679.2:g.7222738T>C | GRCh38 |
| NC_000017.10:g.7126057T>C , CM000679.1:g.7126057T>C | GRCh37 |
| NC_000017.9:g.7066781T>C | NCBI36 |
| NG_007975.1:g.7905T>C | |
| NG_008391.2:g.2313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.950T>C MANE Select | ENSP00000349297.5:p.Val317Ala | |
| ENST00000322910.9:c.*905T>C | ENSP00000325395.5:n.*905T>C | |
| ENST00000350303.9:c.884T>C | ENSP00000344152.5:p.Val295Ala | |
| ENST00000356839.9:c.950T>C | ENSP00000349297.5:p.Val317Ala | |
| ENST00000543245.6:c.1019T>C | ENSP00000438689.2:p.Val340Ala | |
| ENST00000578824.5:n.99T>C | ||
| ENST00000581378.5:c.668T>C | ||
| ENST00000582379.1:n.334T>C | ||
| NM_000018.3:c.950T>C | NP_000009.1:p.Val317Ala | |
| NM_001033859.2:c.884T>C | NP_001029031.1:p.Val295Ala | |
| NM_001270447.1:c.1019T>C | NP_001257376.1:p.Val340Ala | |
| NM_001270448.1:c.722T>C | NP_001257377.1:p.Val241Ala | |
| XM_006721516.2:c.950T>C | XP_006721579.2:p.Val317Ala | |
| XM_011523829.1:c.950T>C | XP_011522131.1:p.Val317Ala | |
| XM_011523830.1:c.950T>C | XP_011522132.1:p.Val317Ala | |
| XR_934021.1:n.1057T>C | ||
| XR_934022.1:n.1057T>C | ||
| XR_934023.1:n.1057T>C | ||
| XM_006721516.3:c.950T>C | XP_006721579.2:p.Val317Ala | |
| XM_011523829.2:c.950T>C | XP_011522131.1:p.Val317Ala | |
| XM_011523830.2:c.950T>C | XP_011522132.1:p.Val317Ala | |
| XM_024450741.1:c.950T>C | XP_024306509.1:p.Val317Ala | |
| XR_934021.2:n.1009T>C | ||
| XR_934022.2:n.1009T>C | ||
| XR_934023.2:n.1009T>C | ||
| NM_000018.4:c.950T>C MANE Select | NP_000009.1:p.Val317Ala | |
| NM_001033859.3:c.884T>C | NP_001029031.1:p.Val295Ala | |
| NM_001270447.2:c.1019T>C | NP_001257376.1:p.Val340Ala | |
| NM_001270448.2:c.722T>C | NP_001257377.1:p.Val241Ala |