Linked Data
ClinVar Variation Id:
482440
dbSNP Id:
rs754320004
ExAC:
5:112178439 G / T
gnomAD v2:
5-112178439-G-T
gnomAD v4:
5-112842742-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842742G>T , CM000667.2:g.112842742G>T | GRCh38 |
| NC_000005.9:g.112178439G>T , CM000667.1:g.112178439G>T | GRCh37 |
| NC_000005.8:g.112206338G>T | NCBI36 |
| NG_008481.4:g.155222G>T , LRG_130:g.155222G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7202G>T | ENSP00000473355.2:p.Gly2401Val | |
| ENST00000505350.2:c.*7154G>T | ENSP00000481752.1:n.*7154G>T | |
| ENST00000507379.6:c.7094G>T | ENSP00000423224.2:p.Gly2365Val | |
| ENST00000509732.6:c.7148G>T | ENSP00000426541.2:p.Gly2383Val | |
| ENST00000512211.7:c.7148G>T | ENSP00000423828.3:p.Gly2383Val | |
| ENST00000257430.9:c.7148G>T MANE Select | ENSP00000257430.4:p.Gly2383Val | |
| ENST00000257430.8:c.7148G>T | ENSP00000257430.4:p.Gly2383Val | |
| ENST00000508376.6:c.7148G>T | ENSP00000427089.2:p.Gly2383Val | |
| ENST00000508624.5:c.*6470G>T | ENSP00000424265.1:n.*6470G>T | |
| ENST00000520401.1:c.230+13770G>T | ||
| NM_000038.5:c.7148G>T | NP_000029.2:p.Gly2383Val | |
| NM_001127510.2:c.7148G>T | NP_001120982.1:p.Gly2383Val | |
| NM_001127511.2:c.7094G>T | NP_001120983.2:p.Gly2365Val | |
| NM_001354895.1:c.7148G>T | NP_001341824.1:p.Gly2383Val | |
| NM_001354896.1:c.7202G>T | NP_001341825.1:p.Gly2401Val | |
| NM_001354897.1:c.7178G>T | NP_001341826.1:p.Gly2393Val | |
| NM_001354898.1:c.7073G>T | NP_001341827.1:p.Gly2358Val | |
| NM_001354899.1:c.7064G>T | NP_001341828.1:p.Gly2355Val | |
| NM_001354900.1:c.7025G>T | NP_001341829.1:p.Gly2342Val | |
| NM_001354901.1:c.6971G>T | NP_001341830.1:p.Gly2324Val | |
| NM_001354902.1:c.6875G>T | NP_001341831.1:p.Gly2292Val | |
| NM_001354903.1:c.6845G>T | NP_001341832.1:p.Gly2282Val | |
| NM_001354904.1:c.6770G>T | NP_001341833.1:p.Gly2257Val | |
| NM_001354905.1:c.6668G>T | NP_001341834.1:p.Gly2223Val | |
| NM_001354906.1:c.6299G>T | NP_001341835.1:p.Gly2100Val | |
| NM_000038.6:c.7148G>T MANE Select | NP_000029.2:p.Gly2383Val | |
| NM_001127510.3:c.7148G>T | NP_001120982.1:p.Gly2383Val | |
| NM_001127511.3:c.7094G>T | NP_001120983.2:p.Gly2365Val | |
| NM_001354895.2:c.7148G>T | NP_001341824.1:p.Gly2383Val | |
| NM_001354896.2:c.7202G>T | NP_001341825.1:p.Gly2401Val | |
| NM_001354897.2:c.7178G>T | NP_001341826.1:p.Gly2393Val | |
| NM_001354898.2:c.7073G>T | NP_001341827.1:p.Gly2358Val | |
| NM_001354899.2:c.7064G>T | NP_001341828.1:p.Gly2355Val | |
| NM_001354900.2:c.7025G>T | NP_001341829.1:p.Gly2342Val | |
| NM_001354901.2:c.6971G>T | NP_001341830.1:p.Gly2324Val | |
| NM_001354902.2:c.6875G>T | NP_001341831.1:p.Gly2292Val | |
| NM_001354903.2:c.6845G>T | NP_001341832.1:p.Gly2282Val | |
| NM_001354904.2:c.6770G>T | NP_001341833.1:p.Gly2257Val | |
| NM_001354905.2:c.6668G>T | NP_001341834.1:p.Gly2223Val | |
| NM_001354906.2:c.6299G>T | NP_001341835.1:p.Gly2100Val |