Linked Data
ClinVar Variation Id:
522325
ClinVar RCV Id:
RCV001343027
dbSNP Id:
rs1479270315
gnomAD v2:
4-110772820-G-A
gnomAD v3:
4-109851664-G-A
gnomAD v4:
4-109851664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109851664G>A , CM000666.2:g.109851664G>A | GRCh38 |
| NC_000004.11:g.110772820G>A , CM000666.1:g.110772820G>A | GRCh37 |
| NC_000004.10:g.110992269G>A | NCBI36 |
| NG_033249.1:g.8481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594814.6:c.277G>A MANE Select | ENSP00000469759.1:p.Val93Met | |
| ENST00000327908.3:c.-430G>A | ENSP00000328222.3:n.-430G>A | |
| ENST00000594814.5:c.277G>A | ENSP00000469759.1:p.Val93Met | |
| NM_198506.4:c.277G>A | NP_940908.3:p.Val93Met | |
| XM_005262979.2:c.-430G>A | XP_005263036.1:n.-430G>A | |
| XM_017008168.1:c.277G>A | XP_016863657.1:p.Val93Met | |
| NM_198506.5:c.277G>A MANE Select | NP_940908.3:p.Val93Met |