Linked Data
ClinVar Variation Id:
1400843
ClinVar RCV Id:
RCV001896779
dbSNP Id:
rs779381935
ExAC:
8:61777687 C / A
gnomAD v2:
8-61777687-C-A
gnomAD v3:
8-60865128-C-A
gnomAD v4:
8-60865128-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865128C>A , CM000670.2:g.60865128C>A | GRCh38 |
| NC_000008.10:g.61777687C>A , CM000670.1:g.61777687C>A | GRCh37 |
| NC_000008.9:g.61940241C>A | NCBI36 |
| NG_007009.1:g.191349C>A , LRG_176:g.191349C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1365C>A | ||
| ENST00000695852.1:n.296C>A | ||
| ENST00000695853.1:c.*1248C>A | ENSP00000512218.1:n.*1248C>A | |
| ENST00000423902.7:c.8189C>A MANE Select | ENSP00000392028.1:p.Ala2730Glu | |
| ENST00000423902.6:c.8189C>A | ENSP00000392028.1:p.Ala2730Glu | |
| ENST00000524602.5:c.2042C>A | ENSP00000437061.1:p.Ala681Glu | |
| ENST00000528280.1:n.235C>A | ||
| ENST00000532149.1:n.611C>A | ||
| NM_001316690.1:c.2042C>A | NP_001303619.1:p.Ala681Glu | |
| NM_017780.3:c.8189C>A | NP_060250.2:p.Ala2730Glu | |
| XM_011517553.1:c.8279C>A | XP_011515855.1:p.Ala2760Glu | |
| XM_011517554.1:c.8279C>A | XP_011515856.1:p.Ala2760Glu | |
| XM_011517555.1:c.8276C>A | XP_011515857.1:p.Ala2759Glu | |
| XM_011517556.1:c.8057C>A | XP_011515858.1:p.Ala2686Glu | |
| XM_011517557.1:c.6266C>A | XP_011515859.1:p.Ala2089Glu | |
| XM_011517558.1:c.5816C>A | XP_011515860.1:p.Ala1939Glu | |
| XM_011517559.1:c.5024C>A | XP_011515861.1:p.Ala1675Glu | |
| XM_011517553.2:c.8279C>A | XP_011515855.1:p.Ala2760Glu | |
| XM_011517554.3:c.8279C>A | XP_011515856.1:p.Ala2760Glu | |
| XM_011517555.2:c.8276C>A | XP_011515857.1:p.Ala2759Glu | |
| XM_017013612.1:c.8279C>A | XP_016869101.1:p.Ala2760Glu | |
| XM_017013613.1:c.8186C>A | XP_016869102.1:p.Ala2729Glu | |
| NM_017780.4:c.8189C>A MANE Select | NP_060250.2:p.Ala2730Glu |