Linked Data
ClinVar Variation Id:
21025
dbSNP Id:
rs113994167
ExAC:
17:7125591 T / C
gnomAD v2:
17-7125591-T-C
gnomAD v3:
17-7222272-T-C
gnomAD v4:
17-7222272-T-C
ERepo:
CA285294/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222272T>C , CM000679.2:g.7222272T>C | GRCh38 |
| NC_000017.10:g.7125591T>C , CM000679.1:g.7125591T>C | GRCh37 |
| NC_000017.9:g.7066315T>C | NCBI36 |
| NG_007975.1:g.7439T>C | |
| NG_008391.2:g.2779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.848T>C MANE Select | ENSP00000349297.5:p.Val283Ala | |
| ENST00000322910.9:c.*803T>C | ENSP00000325395.5:n.*803T>C | |
| ENST00000350303.9:c.782T>C | ENSP00000344152.5:p.Val261Ala | |
| ENST00000356839.9:c.848T>C | ENSP00000349297.5:p.Val283Ala | |
| ENST00000543245.6:c.917T>C | ENSP00000438689.2:p.Val306Ala | |
| ENST00000577191.5:n.1020T>C | ||
| ENST00000581378.5:c.566T>C | ||
| ENST00000582379.1:n.232T>C | ||
| NM_000018.3:c.848T>C | NP_000009.1:p.Val283Ala | |
| NM_001033859.2:c.782T>C | NP_001029031.1:p.Val261Ala | |
| NM_001270447.1:c.917T>C | NP_001257376.1:p.Val306Ala | |
| NM_001270448.1:c.620T>C | NP_001257377.1:p.Val207Ala | |
| XM_006721516.2:c.848T>C | XP_006721579.2:p.Val283Ala | |
| XM_011523829.1:c.848T>C | XP_011522131.1:p.Val283Ala | |
| XM_011523830.1:c.848T>C | XP_011522132.1:p.Val283Ala | |
| XR_934021.1:n.955T>C | ||
| XR_934022.1:n.955T>C | ||
| XR_934023.1:n.955T>C | ||
| XM_006721516.3:c.848T>C | XP_006721579.2:p.Val283Ala | |
| XM_011523829.2:c.848T>C | XP_011522131.1:p.Val283Ala | |
| XM_011523830.2:c.848T>C | XP_011522132.1:p.Val283Ala | |
| XM_024450741.1:c.848T>C | XP_024306509.1:p.Val283Ala | |
| XR_934021.2:n.907T>C | ||
| XR_934022.2:n.907T>C | ||
| XR_934023.2:n.907T>C | ||
| NM_000018.4:c.848T>C MANE Select | NP_000009.1:p.Val283Ala | |
| NM_001033859.3:c.782T>C | NP_001029031.1:p.Val261Ala | |
| NM_001270447.2:c.917T>C | NP_001257376.1:p.Val306Ala | |
| NM_001270448.2:c.620T>C | NP_001257377.1:p.Val207Ala |