Linked Data
ClinVar Variation Id:
387978
dbSNP Id:
rs776964645
ExAC:
2:27534784 C / T
gnomAD v2:
2-27534784-C-T
gnomAD v3:
2-27311916-C-T
gnomAD v4:
2-27311916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27311916C>T , CM000664.2:g.27311916C>T | GRCh38 |
| NC_000002.11:g.27534784C>T , CM000664.1:g.27534784C>T | GRCh37 |
| NC_000002.10:g.27388288C>T | NCBI36 |
| NG_008075.1:g.15648G>A | |
| NG_033055.1:g.1347G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.444G>A MANE Select | ENSP00000369383.1:p.Leu148= | |
| ENST00000233545.6:c.444G>A | ENSP00000233545.2:p.Leu148= | |
| ENST00000357186.10:c.276G>A | ENSP00000349713.6:p.Leu92= | |
| ENST00000380044.5:c.444G>A | ENSP00000369383.1:p.Leu148= | |
| ENST00000402310.5:c.408+298G>A | ENSP00000383955.1:n.408+298G>A | |
| ENST00000402722.5:c.*40+578G>A | ENSP00000386000.1:n.*40+578G>A | |
| ENST00000403262.6:c.444G>A | ENSP00000385671.1:p.Leu148= | |
| ENST00000405076.5:c.255G>A | ENSP00000385175.1:p.Leu85= | |
| ENST00000405983.5:c.489G>A | ENSP00000384586.1:p.Leu163= | |
| ENST00000415514.5:c.*245G>A | ENSP00000388043.1:n.*245G>A | |
| ENST00000426513.6:c.*109G>A | ENSP00000403824.2:n.*109G>A | |
| ENST00000430991.5:c.278G>A | ||
| ENST00000616707.1:n.1472G>A | ||
| ENST00000620797.4:n.117G>A | ||
| ENST00000621183.4:n.747G>A | ||
| NM_002437.4:c.444G>A | NP_002428.1:p.Leu148= | |
| XM_005264326.2:c.444G>A | XP_005264383.1:p.Leu148= | |
| XM_005264327.2:c.285G>A | XP_005264384.1:p.Leu95= | |
| XM_006712021.2:c.396G>A | XP_006712084.1:p.Leu132= | |
| XM_005264326.4:c.444G>A | XP_005264383.1:p.Leu148= | |
| XM_006712021.3:c.396G>A | XP_006712084.1:p.Leu132= | |
| XM_017004150.1:c.426G>A | XP_016859639.1:p.Leu142= | |
| XM_017004151.1:c.396G>A | XP_016859640.1:p.Leu132= | |
| XM_017004152.1:c.285G>A | XP_016859641.1:p.Leu95= | |
| XM_024452913.1:c.396G>A | XP_024308681.1:p.Leu132= | |
| NM_002437.5:c.444G>A MANE Select | NP_002428.1:p.Leu148= |