Linked Data
ClinVar Variation Id:
1698007
ClinVar RCV Id:
RCV002269430
dbSNP Id:
rs942070972
gnomAD v4:
8-60860947-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860947C>A , CM000670.2:g.60860947C>A | GRCh38 |
| NC_000008.10:g.61773506C>A , CM000670.1:g.61773506C>A | GRCh37 |
| NC_000008.9:g.61936060C>A | NCBI36 |
| NG_007009.1:g.187168C>A , LRG_176:g.187168C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.828C>A | ||
| ENST00000695851.1:n.32C>A | ||
| ENST00000695853.1:c.*711C>A | ENSP00000512218.1:n.*711C>A | |
| ENST00000423902.7:c.7652C>A MANE Select | ENSP00000392028.1:p.Thr2551Asn | |
| ENST00000423902.6:c.7652C>A | ENSP00000392028.1:p.Thr2551Asn | |
| ENST00000524602.5:c.1717-1282C>A | ENSP00000437061.1:n.1717-1282C>A | |
| ENST00000531695.1:n.76C>A | ||
| ENST00000618450.1:n.44C>A | ||
| NM_001316690.1:c.1717-1282C>A | NP_001303619.1:n.1717-1282C>A | |
| NM_017780.3:c.7652C>A | NP_060250.2:p.Thr2551Asn | |
| XM_011517553.1:c.7742C>A | XP_011515855.1:p.Thr2581Asn | |
| XM_011517554.1:c.7742C>A | XP_011515856.1:p.Thr2581Asn | |
| XM_011517555.1:c.7739C>A | XP_011515857.1:p.Thr2580Asn | |
| XM_011517556.1:c.7699-1249C>A | XP_011515858.1:n.7699-1249C>A | |
| XM_011517557.1:c.5729C>A | XP_011515859.1:p.Thr1910Asn | |
| XM_011517558.1:c.5279C>A | XP_011515860.1:p.Thr1760Asn | |
| XM_011517559.1:c.4487C>A | XP_011515861.1:p.Thr1496Asn | |
| XM_011517553.2:c.7742C>A | XP_011515855.1:p.Thr2581Asn | |
| XM_011517554.3:c.7742C>A | XP_011515856.1:p.Thr2581Asn | |
| XM_011517555.2:c.7739C>A | XP_011515857.1:p.Thr2580Asn | |
| XM_017013612.1:c.7742C>A | XP_016869101.1:p.Thr2581Asn | |
| XM_017013613.1:c.7649C>A | XP_016869102.1:p.Thr2550Asn | |
| NM_017780.4:c.7652C>A MANE Select | NP_060250.2:p.Thr2551Asn |