Linked Data
ClinVar Variation Id:
305850
dbSNP Id:
rs750717921
ExAC:
11:68704142 A / G
gnomAD v2:
11-68704142-A-G
gnomAD v3:
11-68936674-A-G
gnomAD v4:
11-68936674-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936674A>G , CM000673.2:g.68936674A>G | GRCh38 |
| NC_000011.9:g.68704142A>G , CM000673.1:g.68704142A>G | GRCh37 |
| NC_000011.8:g.68460718A>G | NCBI36 |
| NG_007976.1:g.37824A>G , LRG_250:g.37824A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2194A>G MANE Select | ENSP00000255078.4:p.Met732Val | |
| ENST00000674675.1:c.438A>G | ||
| ENST00000674878.1:c.438A>G | ||
| ENST00000674955.1:c.*911A>G | ENSP00000502463.1:n.*911A>G | |
| ENST00000675118.1:c.1682A>G | ||
| ENST00000675389.1:n.469A>G | ||
| ENST00000675615.1:c.2194A>G | ENSP00000502413.1:p.Met732Val | |
| ENST00000675648.1:n.1569A>G | ||
| ENST00000675916.1:c.438A>G | ||
| ENST00000676173.1:n.2939A>G | ||
| ENST00000676182.1:c.625A>G | ||
| ENST00000676228.1:c.*1517A>G | ENSP00000502375.1:n.*1517A>G | |
| ENST00000255078.7:c.2194A>G | ENSP00000255078.3:p.Met732Val | |
| ENST00000539064.5:n.1953A>G | ||
| ENST00000543739.5:n.1187A>G | ||
| NM_002180.2:c.2194A>G , LRG_250t1:c.2194A>G | NP_002171.2:p.Met732Val | |
| XM_005273974.2:c.1183A>G | XP_005274031.1:p.Met395Val | |
| XM_005273975.2:c.1066A>G | XP_005274032.1:p.Met356Val | |
| XM_011544994.1:c.961A>G | XP_011543296.1:p.Met321Val | |
| XR_949903.1:n.2296A>G | ||
| XM_005273975.3:c.1066A>G | XP_005274032.1:p.Met356Val | |
| XM_017017669.2:c.1183A>G | XP_016873158.1:p.Met395Val | |
| XM_017017670.2:c.1183A>G | XP_016873159.1:p.Met395Val | |
| XR_949903.3:n.2292A>G | ||
| NM_002180.3:c.2194A>G MANE Select | NP_002171.2:p.Met732Val |