Linked Data
ClinVar Variation Id:
46333
dbSNP Id:
rs371831553
ExAC:
5:89971170 T / C
gnomAD v2:
5-89971170-T-C
gnomAD v3:
5-90675353-T-C
gnomAD v4:
5-90675353-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90675353T>C , CM000667.2:g.90675353T>C | GRCh38 |
| NC_000005.9:g.89971170T>C , CM000667.1:g.89971170T>C | GRCh37 |
| NC_000005.8:g.90006926T>C | NCBI36 |
| NG_007083.1:g.121554T>C | |
| NG_007083.2:g.151010T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.5221T>C MANE Select | ENSP00000384582.2:p.Leu1741= | |
| ENST00000639431.1:c.43T>C | ENSP00000491057.1:p.Leu15= | |
| ENST00000639473.1:n.680T>C | ||
| ENST00000640403.1:c.2512T>C | ENSP00000492531.1:p.Leu838= | |
| ENST00000640779.1:c.36T>C | ||
| ENST00000405460.6:c.5221T>C | ENSP00000384582.2:p.Leu1741= | |
| ENST00000450321.2:n.556T>C | ||
| NM_032119.3:c.5221T>C | NP_115495.3:p.Leu1741= | |
| NR_003149.1:n.5317T>C | ||
| XM_011543675.1:c.5221T>C | XP_011541977.1:p.Leu1741= | |
| XM_011543676.1:c.5221T>C | XP_011541978.1:p.Leu1741= | |
| XM_011543677.1:c.2524T>C | XP_011541979.1:p.Leu842= | |
| XM_011543678.1:c.5221T>C | XP_011541980.1:p.Leu1741= | |
| XM_011543679.1:c.5221T>C | XP_011541981.1:p.Leu1741= | |
| NM_032119.4:c.5221T>C MANE Select | NP_115495.3:p.Leu1741= | |
| XM_017009963.2:c.5221T>C | XP_016865452.1:p.Leu1741= | |
| XM_017009964.2:c.5221T>C | XP_016865453.1:p.Leu1741= | |
| XM_017009965.1:c.5218T>C | XP_016865454.1:p.Leu1740= | |
| XM_017009966.2:c.5221T>C | XP_016865455.1:p.Leu1741= | |
| XM_017009967.1:c.5125T>C | XP_016865456.1:p.Leu1709= | |
| XM_017009968.2:c.5221T>C | XP_016865457.1:p.Leu1741= | |
| XM_017009969.2:c.5221T>C | XP_016865458.1:p.Leu1741= | |
| XM_017009970.2:c.5221T>C | XP_016865459.1:p.Leu1741= | |
| XM_017009971.2:c.5221T>C | XP_016865460.1:p.Leu1741= | |
| XM_017009973.1:c.-1576T>C | XP_016865462.1:n.-1576T>C | |
| XM_017009974.2:c.5221T>C | XP_016865463.1:p.Leu1741= | |
| NR_003149.2:n.5320T>C |