Linked Data
ClinVar Variation Id:
872351
dbSNP Id:
rs763737676
ExAC:
5:125880669 G / C
gnomAD v2:
5-125880669-G-C
gnomAD v3:
5-126544977-G-C
gnomAD v4:
5-126544977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126544977G>C , CM000667.2:g.126544977G>C | GRCh38 |
| NC_000005.9:g.125880669G>C , CM000667.1:g.125880669G>C | GRCh37 |
| NC_000005.8:g.125908568G>C | NCBI36 |
| NG_008600.2:g.55414C>G | |
| NG_008600.3:g.55414C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1608C>G MANE Select | ENSP00000387123.3:p.Ile536Met | |
| ENST00000458249.6:c.*1517C>G | ENSP00000403929.1:n.*1517C>G | |
| ENST00000485852.7:n.355C>G | ||
| ENST00000497231.7:n.2035C>G | ||
| ENST00000635851.1:c.1563+1347C>G | ||
| ENST00000636286.1:n.1373C>G | ||
| ENST00000636482.1:n.1142C>G | ||
| ENST00000636743.1:c.1488C>G | ENSP00000489725.1:p.Ile496Met | |
| ENST00000636808.1:c.*1417C>G | ENSP00000490833.1:n.*1417C>G | |
| ENST00000636872.1:c.1768C>G | ENSP00000490919.1:n.1768C>G | |
| ENST00000636879.1:c.1653C>G | ENSP00000490811.1:p.Ile551Met | |
| ENST00000636886.1:c.1407C>G | ENSP00000490371.1:p.Ile469Met | |
| ENST00000637206.1:c.1428C>G | ENSP00000489895.1:p.Ile476Met | |
| ENST00000637272.1:c.1599C>G | ENSP00000489686.1:p.Ile533Met | |
| ENST00000637292.1:c.1064C>G | ||
| ENST00000637782.1:c.1565+1347C>G | ENSP00000490024.1:n.1565+1347C>G | |
| ENST00000638008.1:c.*1452C>G | ENSP00000490400.1:n.*1452C>G | |
| ENST00000638010.1:n.1554C>G | ||
| ENST00000409134.7:c.1608C>G | ENSP00000387123.3:p.Ile536Met | |
| ENST00000447989.6:c.1497C>G | ENSP00000414132.2:p.Ile499Met | |
| ENST00000485852.6:n.355C>G | ||
| ENST00000497231.6:n.1818C>G | ||
| ENST00000553117.5:c.1416C>G | ENSP00000448593.1:p.Ile472Met | |
| NM_001182.4:c.1608C>G | NP_001173.2:p.Ile536Met | |
| NM_001201377.1:c.1524C>G | NP_001188306.1:p.Ile508Met | |
| NM_001202404.1:c.1497C>G | NP_001189333.1:p.Ile499Met | |
| XM_011543417.1:c.1203C>G | XP_011541719.1:p.Ile401Met | |
| XM_011543417.2:c.1203C>G | XP_011541719.1:p.Ile401Met | |
| NM_001182.5:c.1608C>G MANE Select | NP_001173.2:p.Ile536Met | |
| NM_001201377.2:c.1524C>G | NP_001188306.1:p.Ile508Met | |
| NM_001202404.2:c.1416C>G | NP_001189333.2:p.Ile472Met |