Linked Data
ClinVar Variation Id:
582344
ClinVar RCV Id:
RCV003352999
dbSNP Id:
rs765629130
ExAC:
2:215645774 A / G
gnomAD v2:
2-215645774-A-G
gnomAD v4:
2-214781050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781050A>G , CM000664.2:g.214781050A>G | GRCh38 |
| NC_000002.11:g.215645774A>G , CM000664.1:g.215645774A>G | GRCh37 |
| NC_000002.10:g.215354019A>G | NCBI36 |
| NG_012047.2:g.33655T>C | |
| NG_012047.3:g.33662T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.824T>C MANE Select | ENSP00000260947.4:p.Leu275Ser | |
| ENST00000421162.2:c.215+16011T>C | ENSP00000392245.2:n.215+16011T>C | |
| ENST00000613192.2:c.158+28362T>C | ENSP00000483275.2:n.158+28362T>C | |
| ENST00000613374.5:c.158+28362T>C | ENSP00000484464.1:n.158+28362T>C | |
| ENST00000613706.5:c.824T>C | ENSP00000484976.2:p.Leu275Ser | |
| ENST00000617164.5:c.767T>C | ENSP00000480470.1:p.Leu256Ser | |
| ENST00000619009.5:c.364+11247T>C | ENSP00000482293.1:n.364+11247T>C | |
| ENST00000650978.1:c.666T>C | ||
| ENST00000260947.8:c.824T>C | ENSP00000260947.4:p.Leu275Ser | |
| ENST00000421162.1:c.215+16011T>C | ENSP00000392245.1:n.215+16011T>C | |
| ENST00000455743.5:c.*444T>C | ENSP00000412186.1:n.*444T>C | |
| ENST00000471787.1:n.719T>C | ||
| ENST00000613192.1:c.73+28362T>C | ENSP00000483275.1:n.73+28362T>C | |
| ENST00000613374.4:c.158+28362T>C | ENSP00000484464.1:n.158+28362T>C | |
| ENST00000613706.4:c.215+16011T>C | ENSP00000484976.1:n.215+16011T>C | |
| ENST00000617164.4:c.767T>C | ENSP00000480470.1:p.Leu256Ser | |
| ENST00000619009.4:c.364+11247T>C | ENSP00000482293.1:n.364+11247T>C | |
| ENST00000620057.4:c.364+11247T>C | ENSP00000481988.1:n.364+11247T>C | |
| NM_000465.3:c.824T>C | NP_000456.2:p.Leu275Ser | |
| NM_001282543.1:c.767T>C | NP_001269472.1:p.Leu256Ser | |
| NM_001282545.1:c.215+16011T>C | NP_001269474.1:n.215+16011T>C | |
| NM_001282548.1:c.158+28362T>C | NP_001269477.1:n.158+28362T>C | |
| NM_001282549.1:c.364+11247T>C | NP_001269478.1:n.364+11247T>C | |
| NR_104212.1:n.817T>C | ||
| NR_104215.1:n.760T>C | ||
| NR_104216.1:n.506+11247T>C | ||
| XM_011511567.1:c.770T>C | XP_011509869.1:p.Leu257Ser | |
| XM_011511568.1:c.824T>C | XP_011509870.1:p.Leu275Ser | |
| XM_017004613.1:c.923T>C | XP_016860102.1:p.Leu308Ser | |
| XM_017004614.1:c.923T>C | XP_016860103.1:p.Leu308Ser | |
| XR_002959322.1:n.1014T>C | ||
| NM_000465.4:c.824T>C MANE Select | NP_000456.2:p.Leu275Ser | |
| NM_001282543.2:c.767T>C | NP_001269472.1:p.Leu256Ser | |
| NM_001282545.2:c.215+16011T>C | NP_001269474.1:n.215+16011T>C | |
| NM_001282548.2:c.158+28362T>C | NP_001269477.1:n.158+28362T>C | |
| NM_001282549.2:c.364+11247T>C | NP_001269478.1:n.364+11247T>C | |
| NR_104212.2:n.789T>C | ||
| NR_104215.2:n.732T>C | ||
| NR_104216.2:n.478+11247T>C |