Linked Data
ClinVar Variation Id:
3127347
ClinVar RCV Id:
RCV004424700
dbSNP Id:
rs750871073
ExAC:
7:150553688 G / A
gnomAD v2:
7-150553688-G-A
gnomAD v3:
7-150856600-G-A
gnomAD v4:
7-150856600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150856600G>A , CM000669.2:g.150856600G>A | GRCh38 |
| NC_000007.13:g.150553688G>A , CM000669.1:g.150553688G>A | GRCh37 |
| NC_000007.12:g.150184621G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.130G>A MANE Select | ENSP00000354193.4:p.Val44Met | |
| ENST00000360937.8:c.130G>A | ENSP00000354193.4:p.Val44Met | |
| ENST00000416793.6:c.130G>A | ENSP00000411613.2:p.Val44Met | |
| ENST00000460213.1:c.130G>A | ENSP00000418557.1:p.Val44Met | |
| ENST00000467291.5:c.130G>A | ENSP00000418328.1:p.Val44Met | |
| ENST00000483043.1:c.130G>A | ENSP00000417392.1:p.Val44Met | |
| ENST00000493429.5:c.130G>A | ENSP00000418614.1:p.Val44Met | |
| ENST00000619575.1:c.130G>A | ENSP00000481717.1:p.Val44Met | |
| ENST00000622116.4:c.-1293G>A | ENSP00000481520.1:n.-1293G>A | |
| NM_001091.3:c.130G>A | NP_001082.2:p.Val44Met | |
| NM_001272072.1:c.130G>A | NP_001259001.1:p.Val44Met | |
| XM_011516008.1:c.130G>A | XP_011514310.1:p.Val44Met | |
| XM_011516009.1:c.130G>A | XP_011514311.1:p.Val44Met | |
| XR_928169.1:n.296-15155C>T | ||
| XR_928170.1:n.425+12016C>T | ||
| XR_928171.1:n.298-15155C>T | ||
| XM_017011944.1:c.130G>A | XP_016867433.1:p.Val44Met | |
| XM_017011945.1:c.130G>A | XP_016867434.1:p.Val44Met | |
| XM_017011946.2:c.130G>A | XP_016867435.1:p.Val44Met | |
| XM_017011947.1:c.130G>A | XP_016867436.1:p.Val44Met | |
| XR_928169.2:n.302-15155C>T | ||
| XR_928171.2:n.302-15155C>T | ||
| NM_001091.4:c.130G>A MANE Select | NP_001082.2:p.Val44Met | |
| NM_001272072.2:c.130G>A | NP_001259001.1:p.Val44Met |