Linked Data
ClinVar Variation Id:
2055583
ClinVar RCV Id:
RCV002947283
dbSNP Id:
rs1342840553
gnomAD v2:
8-61754447-C-A
gnomAD v4:
8-60841888-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60841888C>A , CM000670.2:g.60841888C>A | GRCh38 |
| NC_000008.10:g.61754447C>A , CM000670.1:g.61754447C>A | GRCh37 |
| NC_000008.9:g.61917001C>A | NCBI36 |
| NG_007009.1:g.168109C>A , LRG_176:g.168109C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.4686C>A | ENSP00000512218.1:p.Thr1562= | |
| ENST00000423902.7:c.4686C>A MANE Select | ENSP00000392028.1:p.Thr1562= | |
| ENST00000423902.6:c.4686C>A | ENSP00000392028.1:p.Thr1562= | |
| ENST00000524602.5:c.1717-20341C>A | ENSP00000437061.1:n.1717-20341C>A | |
| NM_001316690.1:c.1717-20341C>A | NP_001303619.1:n.1717-20341C>A | |
| NM_017780.3:c.4686C>A | NP_060250.2:p.Thr1562= | |
| XM_011517553.1:c.4686C>A | XP_011515855.1:p.Thr1562= | |
| XM_011517554.1:c.4686C>A | XP_011515856.1:p.Thr1562= | |
| XM_011517555.1:c.4686C>A | XP_011515857.1:p.Thr1562= | |
| XM_011517556.1:c.4686C>A | XP_011515858.1:p.Thr1562= | |
| XM_011517557.1:c.2673C>A | XP_011515859.1:p.Thr891= | |
| XM_011517558.1:c.2223C>A | XP_011515860.1:p.Thr741= | |
| XM_011517559.1:c.1431C>A | XP_011515861.1:p.Thr477= | |
| XM_011517560.1:c.4686C>A | XP_011515862.1:p.Thr1562= | |
| XM_011517553.2:c.4686C>A | XP_011515855.1:p.Thr1562= | |
| XM_011517554.3:c.4686C>A | XP_011515856.1:p.Thr1562= | |
| XM_011517555.2:c.4686C>A | XP_011515857.1:p.Thr1562= | |
| XM_011517560.2:c.4686C>A | XP_011515862.1:p.Thr1562= | |
| XM_017013612.1:c.4686C>A | XP_016869101.1:p.Thr1562= | |
| XM_017013613.1:c.4686C>A | XP_016869102.1:p.Thr1562= | |
| NM_017780.4:c.4686C>A MANE Select | NP_060250.2:p.Thr1562= |