Linked Data
ClinVar Variation Id:
414125
ClinVar RCV Id:
RCV001446083
dbSNP Id:
rs773958595
ExAC:
2:215593523 G / A
gnomAD v2:
2-215593523-G-A
gnomAD v3:
2-214728799-G-A
gnomAD v4:
2-214728799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728799G>A , CM000664.2:g.214728799G>A | GRCh38 |
| NC_000002.11:g.215593523G>A , CM000664.1:g.215593523G>A | GRCh37 |
| NC_000002.10:g.215301768G>A | NCBI36 |
| NG_012047.2:g.85906C>T | |
| NG_012047.3:g.85913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2211C>T MANE Select | ENSP00000260947.4:p.Ile737= | |
| ENST00000421162.2:c.858C>T | ENSP00000392245.2:p.Ile286= | |
| ENST00000613192.2:c.*274C>T | ENSP00000483275.2:n.*274C>T | |
| ENST00000613374.5:c.801C>T | ENSP00000484464.1:p.Ile267= | |
| ENST00000613706.5:c.1803C>T | ENSP00000484976.2:p.Ile601= | |
| ENST00000617164.5:c.2154C>T | ENSP00000480470.1:p.Ile718= | |
| ENST00000619009.5:c.672C>T | ENSP00000482293.1:p.Ile224= | |
| ENST00000650978.1:c.3586C>T | ||
| ENST00000260947.8:c.2211C>T | ENSP00000260947.4:p.Ile737= | |
| ENST00000432456.5:c.354C>T | ||
| ENST00000455743.5:c.*1831C>T | ENSP00000412186.1:n.*1831C>T | |
| ENST00000471590.5:n.546C>T | ||
| ENST00000613192.1:c.381C>T | ENSP00000483275.1:p.Ile127= | |
| ENST00000613374.4:c.801C>T | ENSP00000484464.1:p.Ile267= | |
| ENST00000613706.4:c.858C>T | ENSP00000484976.1:p.Ile286= | |
| ENST00000617164.4:c.2154C>T | ENSP00000480470.1:p.Ile718= | |
| ENST00000619009.4:c.672C>T | ENSP00000482293.1:p.Ile224= | |
| ENST00000620057.4:c.*877C>T | ENSP00000481988.1:n.*877C>T | |
| NM_000465.3:c.2211C>T | NP_000456.2:p.Ile737= | |
| NM_001282543.1:c.2154C>T | NP_001269472.1:p.Ile718= | |
| NM_001282545.1:c.858C>T | NP_001269474.1:p.Ile286= | |
| NM_001282548.1:c.801C>T | NP_001269477.1:p.Ile267= | |
| NM_001282549.1:c.672C>T | NP_001269478.1:p.Ile224= | |
| NR_104212.1:n.2204C>T | ||
| NR_104215.1:n.2147C>T | ||
| NR_104216.1:n.1403C>T | ||
| XM_011511567.1:c.2157C>T | XP_011509869.1:p.Ile719= | |
| XM_017004613.1:c.2310C>T | XP_016860102.1:p.Ile770= | |
| XR_002959322.1:n.2577C>T | ||
| NM_000465.4:c.2211C>T MANE Select | NP_000456.2:p.Ile737= | |
| NM_001282543.2:c.2154C>T | NP_001269472.1:p.Ile718= | |
| NM_001282545.2:c.858C>T | NP_001269474.1:p.Ile286= | |
| NM_001282548.2:c.801C>T | NP_001269477.1:p.Ile267= | |
| NM_001282549.2:c.672C>T | NP_001269478.1:p.Ile224= | |
| NR_104212.2:n.2176C>T | ||
| NR_104215.2:n.2119C>T | ||
| NR_104216.2:n.1375C>T |