Linked Data
ClinVar Variation Id:
1405169
ClinVar RCV Id:
RCV001927924
dbSNP Id:
rs1302295057
gnomAD v2:
7-55268977-G-A
gnomAD v4:
7-55201284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55201284G>A , CM000669.2:g.55201284G>A | GRCh38 |
| NC_000007.13:g.55268977G>A , CM000669.1:g.55268977G>A | GRCh37 |
| NC_000007.12:g.55236471G>A | NCBI36 |
| NG_007726.3:g.187253G>A , LRG_304:g.187253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2884G>A | ENSP00000413354.2:p.Glu962Lys | |
| ENST00000700145.1:c.900-4063G>A | ||
| ENST00000700146.1:n.787G>A | ||
| ENST00000700147.1:n.712G>A | ||
| ENST00000275493.7:c.3043G>A MANE Select | ENSP00000275493.2:p.Glu1015Lys | |
| ENST00000275493.6:c.3043G>A | ENSP00000275493.2:p.Glu1015Lys | |
| ENST00000442591.5:c.*28+28356G>A | ENSP00000410031.1:n.*28+28356G>A | |
| ENST00000454757.6:c.2908G>A | ENSP00000395243.3:p.Glu970Lys | |
| ENST00000455089.5:c.2908G>A | ENSP00000415559.1:p.Glu970Lys | |
| NM_005228.3:c.3043G>A , LRG_304t1:c.3043G>A | NP_005219.2:p.Glu1015Lys | |
| NM_001346897.1:c.2908G>A | NP_001333826.1:p.Glu970Lys | |
| NM_001346898.1:c.3043G>A | NP_001333827.1:p.Glu1015Lys | |
| NM_001346899.1:c.2908G>A | NP_001333828.1:p.Glu970Lys | |
| NM_001346900.1:c.2884G>A | NP_001333829.1:p.Glu962Lys | |
| NM_001346941.1:c.2242G>A | NP_001333870.1:p.Glu748Lys | |
| NM_005228.4:c.3043G>A | NP_005219.2:p.Glu1015Lys | |
| NM_005228.5:c.3043G>A MANE Select | NP_005219.2:p.Glu1015Lys | |
| NM_001346897.2:c.2908G>A | NP_001333826.1:p.Glu970Lys | |
| NM_001346898.2:c.3043G>A | NP_001333827.1:p.Glu1015Lys | |
| NM_001346900.2:c.2884G>A | NP_001333829.1:p.Glu962Lys | |
| NM_001346941.2:c.2242G>A | NP_001333870.1:p.Glu748Lys | |
| NM_001346899.2:c.2908G>A | NP_001333828.1:p.Glu970Lys |