Linked Data
ClinVar Variation Id:
3770
ClinVar RCV Id:
RCV000003968
dbSNP Id:
rs267607142
gnomAD v3:
19-49157885-G-A
gnomAD v4:
19-49157885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49157885G>A , CM000681.2:g.49157885G>A | GRCh38 |
| NC_000019.9:g.49661142G>A , CM000681.1:g.49661142G>A | GRCh37 |
| NC_000019.8:g.54352954G>A | NCBI36 |
| NG_027551.1:g.5127G>A | |
| NG_027551.2:g.5127G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252826.10:c.19G>A MANE Select | ENSP00000252826.4:p.Glu7Lys | |
| ENST00000252826.9:c.19G>A | ENSP00000252826.4:p.Glu7Lys | |
| ENST00000427978.6:c.19G>A | ENSP00000407492.1:p.Glu7Lys | |
| ENST00000595519.5:c.19G>A | ENSP00000469893.1:p.Glu7Lys | |
| ENST00000596338.5:n.54G>A | ||
| ENST00000598502.5:c.19G>A | ENSP00000470229.1:p.Glu7Lys | |
| ENST00000598691.5:c.19G>A | ENSP00000473231.1:p.Glu7Lys | |
| ENST00000598697.5:c.19G>A | ENSP00000468989.1:p.Glu7Lys | |
| ENST00000599628.5:c.19G>A | ENSP00000483753.1:p.Glu7Lys | |
| NM_001195227.1:c.19G>A | NP_001182156.1:p.Glu7Lys | |
| NM_017636.3:c.19G>A | NP_060106.2:p.Glu7Lys | |
| XM_011527046.1:c.-148G>A | XP_011525348.1:n.-148G>A | |
| NM_001321281.1:c.19G>A | NP_001308210.1:p.Glu7Lys | |
| NM_001321282.1:c.-1354G>A | NP_001308211.1:n.-1354G>A | |
| NM_001321283.1:c.-148G>A | NP_001308212.1:n.-148G>A | |
| NM_001321285.1:c.-311G>A | NP_001308214.1:n.-311G>A | |
| NM_017636.4:c.19G>A MANE Select | NP_060106.2:p.Glu7Lys | |
| NM_001195227.2:c.19G>A | NP_001182156.1:p.Glu7Lys | |
| NM_001321281.2:c.19G>A | NP_001308210.1:p.Glu7Lys | |
| NM_001321282.2:c.-1354G>A | NP_001308211.1:n.-1354G>A | |
| NM_001321283.2:c.-148G>A | NP_001308212.1:n.-148G>A | |
| NM_001321285.2:c.-311G>A | NP_001308214.1:n.-311G>A |