Linked Data
ClinVar Variation Id:
776610
ClinVar RCV Id:
RCV000956940
dbSNP Id:
rs181415072
ExAC:
11:49053152 A / G
gnomAD v2:
11-49053152-A-G
gnomAD v3:
11-49031600-A-G
gnomAD v4:
11-49031600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.49031600A>G , CM000673.2:g.49031600A>G | GRCh38 |
| NC_000011.9:g.49053152A>G , CM000673.1:g.49053152A>G | GRCh37 |
| NC_000011.8:g.49009728A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332682.9:c.1A>G MANE Select | ENSP00000330216.7:p.Met1Val | |
| ENST00000332682.8:c.1A>G | ENSP00000330216.7:p.Met1Val | |
| ENST00000622138.4:c.1A>G | ENSP00000481457.1:p.Met1Val | |
| NM_001206626.1:c.1A>G | NP_001193555.1:p.Met1Val | |
| XM_017017561.1:c.1A>G | XP_016873050.1:p.Met1Val | |
| NM_001206626.2:c.1A>G MANE Select | NP_001193555.1:p.Met1Val |