Linked Data
ClinVar Variation Id:
1934351
ClinVar RCV Id:
RCV002631882
dbSNP Id:
rs1169276998
gnomAD v2:
19-36223516-C-A
gnomAD v4:
19-35732615-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732615C>A , CM000681.2:g.35732615C>A | GRCh38 |
| NC_000019.9:g.36223516C>A , CM000681.1:g.36223516C>A | GRCh37 |
| NC_000019.8:g.40915356C>A | NCBI36 |
| NG_052906.1:g.19597C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.372C>A | ||
| ENST00000673918.2:c.6000C>A | ENSP00000501283.1:p.Asp2000Glu | |
| ENST00000674114.2:c.3607C>A | ENSP00000501039.2:n.3607C>A | |
| ENST00000684977.1:c.1284C>A | ENSP00000509384.1:p.Asp428Glu | |
| ENST00000689544.1:n.1219C>A | ||
| ENST00000691421.1:c.1287C>A | ENSP00000508674.1:p.Asp429Glu | |
| ENST00000691855.1:c.5608C>A | ||
| ENST00000692961.1:c.6066C>A | ENSP00000509289.1:p.Asp2022Glu | |
| ENST00000693677.1:c.704+286C>A | ENSP00000509779.1:n.704+286C>A | |
| ENST00000420124.4:c.6066C>A MANE Select | ENSP00000398837.2:p.Asp2022Glu | |
| ENST00000673918.1:c.6000C>A | ENSP00000501283.1:p.Asp2000Glu | |
| ENST00000674114.1:c.3388C>A | ||
| ENST00000420124.2:c.6066C>A | ENSP00000398837.1:p.Asp2022Glu | |
| NM_014727.2:c.6066C>A | NP_055542.1:p.Asp2022Glu | |
| XM_011527561.1:c.6000C>A | XP_011525863.1:p.Asp2000Glu | |
| XM_011527562.1:c.6066C>A | XP_011525864.1:p.Asp2022Glu | |
| XM_011527563.1:c.5790C>A | XP_011525865.1:p.Asp1930Glu | |
| XM_011527561.2:c.5502C>A | XP_011525863.2:p.Asp1834Glu | |
| XM_011527562.2:c.6066C>A | XP_011525864.1:p.Asp2022Glu | |
| XM_017027544.1:c.6066C>A | XP_016883033.1:p.Asp2022Glu | |
| XM_017027545.1:c.5502C>A | XP_016883034.1:p.Asp1834Glu | |
| XM_017027546.1:c.3030C>A | XP_016883035.1:p.Asp1010Glu | |
| NM_014727.3:c.6066C>A MANE Select | NP_055542.1:p.Asp2022Glu |