Linked Data
ClinVar Variation Id:
1040852
ClinVar RCV Id:
RCV001344572
dbSNP Id:
rs756703787
ExAC:
7:55259538 G / A
gnomAD v2:
7-55259538-G-A
gnomAD v4:
7-55191845-G-A
COSMIC:
COSM13198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191845G>A , CM000669.2:g.55191845G>A | GRCh38 |
| NC_000007.13:g.55259538G>A , CM000669.1:g.55259538G>A | GRCh37 |
| NC_000007.12:g.55227032G>A | NCBI36 |
| NG_007726.3:g.177814G>A , LRG_304:g.177814G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2437G>A | ENSP00000413354.2:p.Glu813Lys | |
| ENST00000700145.1:c.899+46G>A | ||
| ENST00000275493.7:c.2596G>A MANE Select | ENSP00000275493.2:p.Glu866Lys | |
| ENST00000275493.6:c.2596G>A | ENSP00000275493.2:p.Glu866Lys | |
| ENST00000442591.5:c.*28+18917G>A | ENSP00000410031.1:n.*28+18917G>A | |
| ENST00000454757.6:c.2461G>A | ENSP00000395243.3:p.Glu821Lys | |
| ENST00000455089.5:c.2461G>A | ENSP00000415559.1:p.Glu821Lys | |
| NM_005228.3:c.2596G>A , LRG_304t1:c.2596G>A | NP_005219.2:p.Glu866Lys | |
| NM_001346897.1:c.2461G>A | NP_001333826.1:p.Glu821Lys | |
| NM_001346898.1:c.2596G>A | NP_001333827.1:p.Glu866Lys | |
| NM_001346899.1:c.2461G>A | NP_001333828.1:p.Glu821Lys | |
| NM_001346900.1:c.2437G>A | NP_001333829.1:p.Glu813Lys | |
| NM_001346941.1:c.1795G>A | NP_001333870.1:p.Glu599Lys | |
| NM_005228.4:c.2596G>A | NP_005219.2:p.Glu866Lys | |
| NM_005228.5:c.2596G>A MANE Select | NP_005219.2:p.Glu866Lys | |
| NM_001346897.2:c.2461G>A | NP_001333826.1:p.Glu821Lys | |
| NM_001346898.2:c.2596G>A | NP_001333827.1:p.Glu866Lys | |
| NM_001346900.2:c.2437G>A | NP_001333829.1:p.Glu813Lys | |
| NM_001346941.2:c.1795G>A | NP_001333870.1:p.Glu599Lys | |
| NM_001346899.2:c.2461G>A | NP_001333828.1:p.Glu821Lys |