Linked Data
ClinVar Variation Id:
2047234
ClinVar RCV Id:
RCV002904151
dbSNP Id:
rs1189562565
gnomAD v2:
17-7124246-G-A
gnomAD v3:
17-7220927-G-A
gnomAD v4:
17-7220927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220927G>A , CM000679.2:g.7220927G>A | GRCh38 |
| NC_000017.10:g.7124246G>A , CM000679.1:g.7124246G>A | GRCh37 |
| NC_000017.9:g.7064970G>A | NCBI36 |
| NG_007975.1:g.6094G>A | |
| NG_008391.2:g.4124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.346G>A MANE Select | ENSP00000349297.5:p.Val116Met | |
| ENST00000322910.9:c.*301G>A | ENSP00000325395.5:n.*301G>A | |
| ENST00000350303.9:c.280G>A | ENSP00000344152.5:p.Val94Met | |
| ENST00000356839.9:c.346G>A | ENSP00000349297.5:p.Val116Met | |
| ENST00000543245.6:c.415G>A | ENSP00000438689.2:p.Val139Met | |
| ENST00000577191.5:n.423G>A | ||
| ENST00000577433.5:n.554G>A | ||
| ENST00000577857.5:n.293+97G>A | ||
| ENST00000579286.5:n.527G>A | ||
| ENST00000579886.2:c.202-18G>A | ENSP00000463246.1:n.202-18G>A | |
| ENST00000580365.1:n.77G>A | ||
| ENST00000581378.5:c.45G>A | ||
| ENST00000581562.5:n.393G>A | ||
| ENST00000582056.5:n.529G>A | ||
| ENST00000582166.1:n.327G>A | ||
| ENST00000583312.5:c.346G>A | ENSP00000467920.1:p.Val116Met | |
| ENST00000584103.5:c.379G>A | ENSP00000465353.1:p.Val127Met | |
| NM_000018.3:c.346G>A | NP_000009.1:p.Val116Met | |
| NM_001033859.2:c.280G>A | NP_001029031.1:p.Val94Met | |
| NM_001270447.1:c.415G>A | NP_001257376.1:p.Val139Met | |
| NM_001270448.1:c.118G>A | NP_001257377.1:p.Val40Met | |
| XM_006721516.2:c.346G>A | XP_006721579.2:p.Val116Met | |
| XM_011523829.1:c.346G>A | XP_011522131.1:p.Val116Met | |
| XM_011523830.1:c.346G>A | XP_011522132.1:p.Val116Met | |
| XR_934021.1:n.453G>A | ||
| XR_934022.1:n.453G>A | ||
| XR_934023.1:n.453G>A | ||
| XM_006721516.3:c.346G>A | XP_006721579.2:p.Val116Met | |
| XM_011523829.2:c.346G>A | XP_011522131.1:p.Val116Met | |
| XM_011523830.2:c.346G>A | XP_011522132.1:p.Val116Met | |
| XM_024450741.1:c.346G>A | XP_024306509.1:p.Val116Met | |
| XR_934021.2:n.405G>A | ||
| XR_934022.2:n.405G>A | ||
| XR_934023.2:n.405G>A | ||
| NM_000018.4:c.346G>A MANE Select | NP_000009.1:p.Val116Met | |
| NM_001033859.3:c.280G>A | NP_001029031.1:p.Val94Met | |
| NM_001270447.2:c.415G>A | NP_001257376.1:p.Val139Met | |
| NM_001270448.2:c.118G>A | NP_001257377.1:p.Val40Met |