Linked Data
ClinVar Variation Id:
305851
dbSNP Id:
rs754473710
ExAC:
11:68704172 A / G
gnomAD v2:
11-68704172-A-G
gnomAD v3:
11-68936704-A-G
gnomAD v4:
11-68936704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936704A>G , CM000673.2:g.68936704A>G | GRCh38 |
| NC_000011.9:g.68704172A>G , CM000673.1:g.68704172A>G | GRCh37 |
| NC_000011.8:g.68460748A>G | NCBI36 |
| NG_007976.1:g.37854A>G , LRG_250:g.37854A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2224A>G MANE Select | ENSP00000255078.4:p.Met742Val | |
| ENST00000674675.1:c.468A>G | ||
| ENST00000674878.1:c.468A>G | ||
| ENST00000674955.1:c.*941A>G | ENSP00000502463.1:n.*941A>G | |
| ENST00000675118.1:c.1712A>G | ||
| ENST00000675389.1:n.499A>G | ||
| ENST00000675615.1:c.2224A>G | ENSP00000502413.1:p.Met742Val | |
| ENST00000675648.1:n.1599A>G | ||
| ENST00000675916.1:c.468A>G | ||
| ENST00000676173.1:n.2969A>G | ||
| ENST00000676182.1:c.655A>G | ||
| ENST00000676228.1:c.*1547A>G | ENSP00000502375.1:n.*1547A>G | |
| ENST00000255078.7:c.2224A>G | ENSP00000255078.3:p.Met742Val | |
| ENST00000539064.5:n.1983A>G | ||
| ENST00000543739.5:n.1217A>G | ||
| NM_002180.2:c.2224A>G , LRG_250t1:c.2224A>G | NP_002171.2:p.Met742Val | |
| XM_005273974.2:c.1213A>G | XP_005274031.1:p.Met405Val | |
| XM_005273975.2:c.1096A>G | XP_005274032.1:p.Met366Val | |
| XM_011544994.1:c.991A>G | XP_011543296.1:p.Met331Val | |
| XR_949903.1:n.2326A>G | ||
| XM_005273975.3:c.1096A>G | XP_005274032.1:p.Met366Val | |
| XM_017017669.2:c.1213A>G | XP_016873158.1:p.Met405Val | |
| XM_017017670.2:c.1213A>G | XP_016873159.1:p.Met405Val | |
| XR_949903.3:n.2322A>G | ||
| NM_002180.3:c.2224A>G MANE Select | NP_002171.2:p.Met742Val |