Linked Data
ClinVar Variation Id:
14015
ClinVar RCV Id:
RCV000015053
RCV000015054
RCV000015055
RCV000015056
RCV000015057
RCV000015058
RCV000455688
RCV001689570
RCV002504788
dbSNP Id:
rs1799983
ExAC:
7:150696111 T / G
gnomAD v2:
7-150696111-T-G
gnomAD v3:
7-150999023-T-G
gnomAD v4:
7-150999023-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150999023T>G , CM000669.2:g.150999023T>G | GRCh38 |
| NC_000007.13:g.150696111T>G , CM000669.1:g.150696111T>G | GRCh37 |
| NC_000007.12:g.150327044T>G | NCBI36 |
| NG_011992.1:g.12965T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297494.8:c.894T>G MANE Select | ENSP00000297494.3:p.Asp298Glu | |
| ENST00000297494.7:c.894T>G | ENSP00000297494.3:p.Asp298Glu | |
| ENST00000461406.5:c.276T>G | ENSP00000417143.1:p.Asp92Glu | |
| ENST00000467517.1:c.894T>G | ENSP00000420551.1:p.Asp298Glu | |
| ENST00000484524.5:c.894T>G | ENSP00000420215.1:p.Asp298Glu | |
| NM_000603.4:c.894T>G | NP_000594.2:p.Asp298Glu | |
| NM_001160109.1:c.894T>G | NP_001153581.1:p.Asp298Glu | |
| NM_001160110.1:c.894T>G | NP_001153582.1:p.Asp298Glu | |
| NM_001160111.1:c.894T>G | NP_001153583.1:p.Asp298Glu | |
| XM_006716002.2:c.894T>G | XP_006716065.1:p.Asp298Glu | |
| NM_000603.5:c.894T>G MANE Select | NP_000594.2:p.Asp298Glu | |
| NM_001160109.2:c.894T>G | NP_001153581.1:p.Asp298Glu |