Linked Data
ClinVar Variation Id:
760412
ClinVar RCV Id:
RCV001468055
dbSNP Id:
rs774017939
ExAC:
17:76128511 C / T
gnomAD v2:
17-76128511-C-T
gnomAD v3:
17-78132430-C-T
gnomAD v4:
17-78132430-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78132430C>T , CM000679.2:g.78132430C>T | GRCh38 |
| NC_000017.10:g.76128511C>T , CM000679.1:g.76128511C>T | GRCh37 |
| NC_000017.9:g.73640106C>T | NCBI36 |
| NG_007879.1:g.4978G>A , LRG_118:g.4978G>A | |
| NG_007881.1:g.6653C>T , LRG_119:g.6653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.73C>T | ||
| ENST00000698566.1:n.75C>T | ||
| ENST00000698567.1:n.75C>T | ||
| ENST00000318430.10:c.370C>T MANE Select | ENSP00000325561.4:p.Leu124= | |
| ENST00000318430.9:c.370C>T | ENSP00000325561.4:p.Leu124= | |
| ENST00000589691.1:c.-300C>T | ENSP00000467482.1:n.-300C>T | |
| ENST00000590799.5:c.554C>T | ENSP00000465049.1:p.Pro185Leu | |
| NM_152468.4:c.370C>T , LRG_119t1:c.370C>T | NP_689681.2:p.Leu124= | |
| XM_011524402.1:c.370C>T | XP_011522704.1:p.Leu124= | |
| XM_011524403.1:c.370C>T | XP_011522705.1:p.Leu124= | |
| XM_011524404.1:c.370C>T | XP_011522706.1:p.Leu124= | |
| XM_011524405.1:c.256C>T | XP_011522707.1:p.Leu86= | |
| XM_011524406.1:c.370C>T | XP_011522708.1:p.Leu124= | |
| XM_011524409.1:c.370C>T | XP_011522711.1:p.Leu124= | |
| XM_011524410.1:c.370C>T | XP_011522712.1:p.Leu124= | |
| XM_011524411.1:c.370C>T | XP_011522713.1:p.Leu124= | |
| XR_934395.1:n.2679C>T | ||
| XR_934397.1:n.2679C>T | ||
| XR_934398.1:n.2679C>T | ||
| XR_934400.1:n.2679C>T | ||
| XM_017024244.1:c.370C>T | XP_016879733.1:p.Leu124= | |
| XM_024450617.1:c.370C>T | XP_024306385.1:p.Leu124= | |
| XM_024450618.1:c.370C>T | XP_024306386.1:p.Leu124= | |
| XM_024450619.1:c.370C>T | XP_024306387.1:p.Leu124= | |
| XM_024450620.1:c.370C>T | XP_024306388.1:p.Leu124= | |
| XM_024450621.1:c.370C>T | XP_024306389.1:p.Leu124= | |
| XM_024450622.1:c.370C>T | XP_024306390.1:p.Leu124= | |
| XM_024450623.1:c.370C>T | XP_024306391.1:p.Leu124= | |
| XM_024450624.1:c.370C>T | XP_024306392.1:p.Leu124= | |
| XM_024450625.1:c.370C>T | XP_024306393.1:p.Leu124= | |
| XM_024450626.1:c.370C>T | XP_024306394.1:p.Leu124= | |
| XM_024450627.1:c.370C>T | XP_024306395.1:p.Leu124= | |
| XR_002957973.1:n.451C>T | ||
| XR_002957974.1:n.451C>T | ||
| XR_002957975.1:n.451C>T | ||
| XR_002957976.1:n.451C>T | ||
| XR_002957977.1:n.451C>T | ||
| XR_002957978.1:n.451C>T | ||
| XR_002957979.1:n.451C>T | ||
| NM_152468.5:c.370C>T MANE Select | NP_689681.2:p.Leu124= |