Linked Data
ClinVar Variation Id:
2276643
ClinVar RCV Id:
RCV004130783
dbSNP Id:
rs766424945
ExAC:
1:101705572 C / G
gnomAD v2:
1-101705572-C-G
gnomAD v4:
1-101240016-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.101240016C>G , CM000663.2:g.101240016C>G | GRCh38 |
| NC_000001.10:g.101705572C>G , CM000663.1:g.101705572C>G | GRCh37 |
| NC_000001.9:g.101478160C>G | NCBI36 |
| NG_016181.1:g.8268C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305352.7:c.1032C>G MANE Select | ENSP00000305416.6:p.Ile344Met | |
| ENST00000475289.2:c.1032C>G | ENSP00000498038.1:p.Ile344Met | |
| ENST00000561748.2:n.202-1673C>G | ||
| ENST00000648480.1:c.1032C>G | ENSP00000497478.1:p.Ile344Met | |
| ENST00000649383.1:c.1032C>G | ENSP00000497175.1:p.Ile344Met | |
| ENST00000305352.6:c.1032C>G | ENSP00000305416.6:p.Ile344Met | |
| NM_001400.4:c.1032C>G | NP_001391.2:p.Ile344Met | |
| XM_006710399.2:c.1032C>G | XP_006710462.1:p.Ile344Met | |
| NM_001320730.1:c.1032C>G | NP_001307659.1:p.Ile344Met | |
| NM_001400.5:c.1032C>G MANE Select | NP_001391.2:p.Ile344Met | |
| NM_001320730.2:c.1032C>G | NP_001307659.1:p.Ile344Met | |
| NR_174345.1:n.82-1673C>G | ||
| NR_174346.1:n.82-2012C>G | ||
| NR_174347.1:n.1276C>G | ||
| NR_174348.1:n.94-1673C>G | ||
| NR_174349.1:n.1276C>G | ||
| NR_174350.1:n.1288C>G |