Linked Data
ClinVar Variation Id:
2468093
ClinVar RCV Id:
RCV003202213
dbSNP Id:
rs999918773
gnomAD v3:
9-2650389-A-C
gnomAD v4:
9-2650389-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2650389A>C , CM000671.2:g.2650389A>C | GRCh38 |
| NC_000009.11:g.2650389A>C , CM000671.1:g.2650389A>C | GRCh37 |
| NC_000009.10:g.2640389A>C | NCBI36 |
| NG_012741.1:g.33597A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1682A>C | ||
| ENST00000382100.8:c.2124A>C MANE Select | ENSP00000371532.2:p.Glu708Asp | |
| ENST00000679488.1:n.1550A>C | ||
| ENST00000679718.1:n.1360A>C | ||
| ENST00000679750.1:n.1540A>C | ||
| ENST00000679780.1:n.900A>C | ||
| ENST00000679851.1:n.2923A>C | ||
| ENST00000680021.1:n.2324A>C | ||
| ENST00000680043.1:c.1676A>C | ||
| ENST00000680219.1:c.1691A>C | ||
| ENST00000680243.1:c.*1763A>C | ENSP00000505911.1:n.*1763A>C | |
| ENST00000680296.1:c.1550A>C | ||
| ENST00000680332.1:n.1757A>C | ||
| ENST00000680440.1:n.264A>C | ||
| ENST00000680746.1:c.2001A>C | ENSP00000505030.1:p.Glu667Asp | |
| ENST00000680751.1:n.1529A>C | ||
| ENST00000680891.1:c.*1916A>C | ENSP00000505167.1:n.*1916A>C | |
| ENST00000680975.1:n.1509A>C | ||
| ENST00000681087.1:n.1429A>C | ||
| ENST00000681306.1:c.2124A>C | ENSP00000506072.1:p.Glu708Asp | |
| ENST00000681486.1:n.224A>C | ||
| ENST00000681618.1:c.2001A>C | ENSP00000505773.1:p.Glu667Asp | |
| ENST00000681644.1:c.*1796A>C | ENSP00000505180.1:n.*1796A>C | |
| ENST00000681806.1:c.*562A>C | ENSP00000505282.1:n.*562A>C | |
| ENST00000681942.1:c.1607A>C | ||
| ENST00000382099.2:c.2124A>C | ENSP00000371531.2:p.Glu708Asp | |
| ENST00000382100.7:c.2124A>C | ENSP00000371532.2:p.Glu708Asp | |
| NM_001018056.1:c.2124A>C | NP_001018066.1:p.Glu708Asp | |
| NM_003383.3:c.2124A>C | NP_003374.3:p.Glu708Asp | |
| XM_011518029.1:c.2001A>C | XP_011516331.1:p.Glu667Asp | |
| NM_001018056.2:c.2124A>C | NP_001018066.1:p.Glu708Asp | |
| NM_001322225.1:c.2001A>C | NP_001309154.1:p.Glu667Asp | |
| NM_001322226.1:c.2001A>C | NP_001309155.1:p.Glu667Asp | |
| NM_003383.4:c.2124A>C | NP_003374.3:p.Glu708Asp | |
| XR_001746373.2:n.2463A>C | ||
| XR_002956805.1:n.2463A>C | ||
| NM_003383.5:c.2124A>C MANE Select | NP_003374.3:p.Glu708Asp | |
| NM_001018056.3:c.2124A>C | NP_001018066.1:p.Glu708Asp | |
| NM_001322225.2:c.2001A>C | NP_001309154.1:p.Glu667Asp | |
| NM_001322226.2:c.2001A>C | NP_001309155.1:p.Glu667Asp |