Linked Data
ClinVar Variation Id:
550272
ClinVar RCV Id:
RCV000664972
dbSNP Id:
rs755445369
ExAC:
4:995923 G / A
gnomAD v2:
4-995923-G-A
gnomAD v4:
4-1002135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002135G>A , CM000666.2:g.1002135G>A | GRCh38 |
| NC_000004.11:g.995923G>A , CM000666.1:g.995923G>A | GRCh37 |
| NC_000004.10:g.985923G>A | NCBI36 |
| NG_008103.1:g.20139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.946G>A | ENSP00000247933.4:p.Val316Met | |
| ENST00000514224.2:c.946G>A MANE Select | ENSP00000425081.2:p.Val316Met | |
| ENST00000652070.1:n.1002G>A | ||
| ENST00000247933.8:c.946G>A | ENSP00000247933.4:p.Val316Met | |
| ENST00000514224.1:c.550G>A | ENSP00000425081.1:p.Val184Met | |
| ENST00000514698.5:n.946G>A | ||
| NM_000203.4:c.946G>A | NP_000194.2:p.Val316Met | |
| NR_110313.1:n.1034G>A | ||
| XM_006713882.2:c.550G>A | XP_006713945.1:p.Val184Met | |
| XM_011513459.1:c.905G>A | XP_011511761.1:p.Arg302His | |
| XM_011513460.1:c.805G>A | XP_011511762.1:p.Val269Met | |
| XM_011513461.1:c.739G>A | XP_011511763.1:p.Val247Met | |
| XM_011513462.1:c.658G>A | XP_011511764.1:p.Val220Met | |
| XM_011513463.1:c.658G>A | XP_011511765.1:p.Val220Met | |
| XR_924947.1:n.1015G>A | ||
| NM_000203.5:c.946G>A MANE Select | NP_000194.2:p.Val316Met | |
| NM_001363576.1:c.550G>A | NP_001350505.1:p.Val184Met | |
| XM_011513461.2:c.739G>A | XP_011511763.1:p.Val247Met | |
| XM_017008163.1:c.-15G>A | XP_016863652.1:n.-15G>A |