Linked Data
ClinVar Variation Id:
927391
dbSNP Id:
rs771003881
ExAC:
5:112178760 A / T
gnomAD v2:
5-112178760-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843063A>T , CM000667.2:g.112843063A>T | GRCh38 |
| NC_000005.9:g.112178760A>T , CM000667.1:g.112178760A>T | GRCh37 |
| NC_000005.8:g.112206659A>T | NCBI36 |
| NG_008481.4:g.155543A>T , LRG_130:g.155543A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7523A>T | ENSP00000473355.2:p.Asp2508Val | |
| ENST00000505350.2:c.*7475A>T | ENSP00000481752.1:n.*7475A>T | |
| ENST00000507379.6:c.7415A>T | ENSP00000423224.2:p.Asp2472Val | |
| ENST00000509732.6:c.7469A>T | ENSP00000426541.2:p.Asp2490Val | |
| ENST00000512211.7:c.7469A>T | ENSP00000423828.3:p.Asp2490Val | |
| ENST00000257430.9:c.7469A>T MANE Select | ENSP00000257430.4:p.Asp2490Val | |
| ENST00000257430.8:c.7469A>T | ENSP00000257430.4:p.Asp2490Val | |
| ENST00000508376.6:c.7469A>T | ENSP00000427089.2:p.Asp2490Val | |
| ENST00000520401.1:c.231-13586A>T | ||
| NM_000038.5:c.7469A>T | NP_000029.2:p.Asp2490Val | |
| NM_001127510.2:c.7469A>T | NP_001120982.1:p.Asp2490Val | |
| NM_001127511.2:c.7415A>T | NP_001120983.2:p.Asp2472Val | |
| NM_001354895.1:c.7469A>T | NP_001341824.1:p.Asp2490Val | |
| NM_001354896.1:c.7523A>T | NP_001341825.1:p.Asp2508Val | |
| NM_001354897.1:c.7499A>T | NP_001341826.1:p.Asp2500Val | |
| NM_001354898.1:c.7394A>T | NP_001341827.1:p.Asp2465Val | |
| NM_001354899.1:c.7385A>T | NP_001341828.1:p.Asp2462Val | |
| NM_001354900.1:c.7346A>T | NP_001341829.1:p.Asp2449Val | |
| NM_001354901.1:c.7292A>T | NP_001341830.1:p.Asp2431Val | |
| NM_001354902.1:c.7196A>T | NP_001341831.1:p.Asp2399Val | |
| NM_001354903.1:c.7166A>T | NP_001341832.1:p.Asp2389Val | |
| NM_001354904.1:c.7091A>T | NP_001341833.1:p.Asp2364Val | |
| NM_001354905.1:c.6989A>T | NP_001341834.1:p.Asp2330Val | |
| NM_001354906.1:c.6620A>T | NP_001341835.1:p.Asp2207Val | |
| NM_000038.6:c.7469A>T MANE Select | NP_000029.2:p.Asp2490Val | |
| NM_001127510.3:c.7469A>T | NP_001120982.1:p.Asp2490Val | |
| NM_001127511.3:c.7415A>T | NP_001120983.2:p.Asp2472Val | |
| NM_001354895.2:c.7469A>T | NP_001341824.1:p.Asp2490Val | |
| NM_001354896.2:c.7523A>T | NP_001341825.1:p.Asp2508Val | |
| NM_001354897.2:c.7499A>T | NP_001341826.1:p.Asp2500Val | |
| NM_001354898.2:c.7394A>T | NP_001341827.1:p.Asp2465Val | |
| NM_001354899.2:c.7385A>T | NP_001341828.1:p.Asp2462Val | |
| NM_001354900.2:c.7346A>T | NP_001341829.1:p.Asp2449Val | |
| NM_001354901.2:c.7292A>T | NP_001341830.1:p.Asp2431Val | |
| NM_001354902.2:c.7196A>T | NP_001341831.1:p.Asp2399Val | |
| NM_001354903.2:c.7166A>T | NP_001341832.1:p.Asp2389Val | |
| NM_001354904.2:c.7091A>T | NP_001341833.1:p.Asp2364Val | |
| NM_001354905.2:c.6989A>T | NP_001341834.1:p.Asp2330Val | |
| NM_001354906.2:c.6620A>T | NP_001341835.1:p.Asp2207Val |