Linked Data
ClinVar Variation Id:
231116
ClinVar RCV Id:
RCV001533785
RCV001818523
RCV002518292
RCV003765413
RCV003897486
RCV003997882
RCV000216109
dbSNP Id:
rs876658969
gnomAD v2:
5-112170650-A-G
gnomAD v3:
5-112834953-A-G
gnomAD v4:
5-112834953-A-G
ERepo:
CA10578326/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112834953A>G , CM000667.2:g.112834953A>G | GRCh38 |
| NC_000005.9:g.112170650A>G , CM000667.1:g.112170650A>G | GRCh37 |
| NC_000005.8:g.112198549A>G | NCBI36 |
| NG_008481.4:g.147433A>G , LRG_130:g.147433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1411A>G | ENSP00000484935.2:p.Ile471Val | |
| ENST00000504915.3:c.1800A>G | ENSP00000473355.2:p.Glu600= | |
| ENST00000505350.2:c.*1752A>G | ENSP00000481752.1:n.*1752A>G | |
| ENST00000507379.6:c.1692A>G | ENSP00000423224.2:p.Glu564= | |
| ENST00000509732.6:c.1746A>G | ENSP00000426541.2:p.Glu582= | |
| ENST00000512211.7:c.1746A>G | ENSP00000423828.3:p.Glu582= | |
| ENST00000257430.9:c.1746A>G MANE Select | ENSP00000257430.4:p.Glu582= | |
| ENST00000257430.8:c.1746A>G | ENSP00000257430.4:p.Glu582= | |
| ENST00000502371.2:c.99A>G | ||
| ENST00000504915.2:c.435A>G | ENSP00000473355.1:p.Glu145= | |
| ENST00000507379.5:c.1692A>G | ENSP00000423224.1:p.Glu564= | |
| ENST00000508376.6:c.1746A>G | ENSP00000427089.2:p.Glu582= | |
| ENST00000508624.5:c.*1068A>G | ENSP00000424265.1:n.*1068A>G | |
| ENST00000512211.6:c.1746A>G | ENSP00000423828.2:p.Glu582= | |
| ENST00000520401.1:c.230+5981A>G | ||
| NM_000038.5:c.1746A>G | NP_000029.2:p.Glu582= | |
| NM_001127510.2:c.1746A>G | NP_001120982.1:p.Glu582= | |
| NM_001127511.2:c.1692A>G | NP_001120983.2:p.Glu564= | |
| NM_001354895.1:c.1746A>G | NP_001341824.1:p.Glu582= | |
| NM_001354896.1:c.1800A>G | NP_001341825.1:p.Glu600= | |
| NM_001354897.1:c.1776A>G | NP_001341826.1:p.Glu592= | |
| NM_001354898.1:c.1671A>G | NP_001341827.1:p.Glu557= | |
| NM_001354899.1:c.1662A>G | NP_001341828.1:p.Glu554= | |
| NM_001354900.1:c.1623A>G | NP_001341829.1:p.Glu541= | |
| NM_001354901.1:c.1569A>G | NP_001341830.1:p.Glu523= | |
| NM_001354902.1:c.1473A>G | NP_001341831.1:p.Glu491= | |
| NM_001354903.1:c.1443A>G | NP_001341832.1:p.Glu481= | |
| NM_001354904.1:c.1368A>G | NP_001341833.1:p.Glu456= | |
| NM_001354905.1:c.1266A>G | NP_001341834.1:p.Glu422= | |
| NM_001354906.1:c.897A>G | NP_001341835.1:p.Glu299= | |
| NM_000038.6:c.1746A>G MANE Select | NP_000029.2:p.Glu582= | |
| NM_001127510.3:c.1746A>G | NP_001120982.1:p.Glu582= | |
| NM_001127511.3:c.1692A>G | NP_001120983.2:p.Glu564= | |
| NM_001354895.2:c.1746A>G | NP_001341824.1:p.Glu582= | |
| NM_001354896.2:c.1800A>G | NP_001341825.1:p.Glu600= | |
| NM_001354897.2:c.1776A>G | NP_001341826.1:p.Glu592= | |
| NM_001354898.2:c.1671A>G | NP_001341827.1:p.Glu557= | |
| NM_001354899.2:c.1662A>G | NP_001341828.1:p.Glu554= | |
| NM_001354900.2:c.1623A>G | NP_001341829.1:p.Glu541= | |
| NM_001354901.2:c.1569A>G | NP_001341830.1:p.Glu523= | |
| NM_001354902.2:c.1473A>G | NP_001341831.1:p.Glu491= | |
| NM_001354903.2:c.1443A>G | NP_001341832.1:p.Glu481= | |
| NM_001354904.2:c.1368A>G | NP_001341833.1:p.Glu456= | |
| NM_001354905.2:c.1266A>G | NP_001341834.1:p.Glu422= | |
| NM_001354906.2:c.897A>G | NP_001341835.1:p.Glu299= |