Linked Data
ClinVar Variation Id:
2909245
ClinVar RCV Id:
RCV003603814
dbSNP Id:
rs1563673442
gnomAD v4:
8-60865116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865116C>T , CM000670.2:g.60865116C>T | GRCh38 |
| NC_000008.10:g.61777675C>T , CM000670.1:g.61777675C>T | GRCh37 |
| NC_000008.9:g.61940229C>T | NCBI36 |
| NG_007009.1:g.191337C>T , LRG_176:g.191337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1353C>T | ||
| ENST00000695852.1:n.284C>T | ||
| ENST00000695853.1:c.*1236C>T | ENSP00000512218.1:n.*1236C>T | |
| ENST00000423902.7:c.8177C>T MANE Select | ENSP00000392028.1:p.Ala2726Val | |
| ENST00000423902.6:c.8177C>T | ENSP00000392028.1:p.Ala2726Val | |
| ENST00000524602.5:c.2030C>T | ENSP00000437061.1:p.Ala677Val | |
| ENST00000528280.1:n.223C>T | ||
| ENST00000532149.1:n.599C>T | ||
| ENST00000618450.1:n.4213C>T | ||
| NM_001316690.1:c.2030C>T | NP_001303619.1:p.Ala677Val | |
| NM_017780.3:c.8177C>T | NP_060250.2:p.Ala2726Val | |
| XM_011517553.1:c.8267C>T | XP_011515855.1:p.Ala2756Val | |
| XM_011517554.1:c.8267C>T | XP_011515856.1:p.Ala2756Val | |
| XM_011517555.1:c.8264C>T | XP_011515857.1:p.Ala2755Val | |
| XM_011517556.1:c.8045C>T | XP_011515858.1:p.Ala2682Val | |
| XM_011517557.1:c.6254C>T | XP_011515859.1:p.Ala2085Val | |
| XM_011517558.1:c.5804C>T | XP_011515860.1:p.Ala1935Val | |
| XM_011517559.1:c.5012C>T | XP_011515861.1:p.Ala1671Val | |
| XM_011517553.2:c.8267C>T | XP_011515855.1:p.Ala2756Val | |
| XM_011517554.3:c.8267C>T | XP_011515856.1:p.Ala2756Val | |
| XM_011517555.2:c.8264C>T | XP_011515857.1:p.Ala2755Val | |
| XM_017013612.1:c.8267C>T | XP_016869101.1:p.Ala2756Val | |
| XM_017013613.1:c.8174C>T | XP_016869102.1:p.Ala2725Val | |
| NM_017780.4:c.8177C>T MANE Select | NP_060250.2:p.Ala2726Val |