Linked Data
ClinVar Variation Id:
1979996
dbSNP Id:
rs561255469
ExAC:
8:61773567 T / C
gnomAD v2:
8-61773567-T-C
gnomAD v3:
8-60861008-T-C
gnomAD v4:
8-60861008-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60861008T>C , CM000670.2:g.60861008T>C | GRCh38 |
| NC_000008.10:g.61773567T>C , CM000670.1:g.61773567T>C | GRCh37 |
| NC_000008.9:g.61936121T>C | NCBI36 |
| NG_007009.1:g.187229T>C , LRG_176:g.187229T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.889T>C | ||
| ENST00000695851.1:n.93T>C | ||
| ENST00000695853.1:c.*772T>C | ENSP00000512218.1:n.*772T>C | |
| ENST00000423902.7:c.7713T>C MANE Select | ENSP00000392028.1:p.Val2571= | |
| ENST00000423902.6:c.7713T>C | ENSP00000392028.1:p.Val2571= | |
| ENST00000524602.5:c.1717-1221T>C | ENSP00000437061.1:n.1717-1221T>C | |
| ENST00000531695.1:n.137T>C | ||
| ENST00000618450.1:n.105T>C | ||
| NM_001316690.1:c.1717-1221T>C | NP_001303619.1:n.1717-1221T>C | |
| NM_017780.3:c.7713T>C | NP_060250.2:p.Val2571= | |
| XM_011517553.1:c.7803T>C | XP_011515855.1:p.Val2601= | |
| XM_011517554.1:c.7803T>C | XP_011515856.1:p.Val2601= | |
| XM_011517555.1:c.7800T>C | XP_011515857.1:p.Val2600= | |
| XM_011517556.1:c.7699-1188T>C | XP_011515858.1:n.7699-1188T>C | |
| XM_011517557.1:c.5790T>C | XP_011515859.1:p.Val1930= | |
| XM_011517558.1:c.5340T>C | XP_011515860.1:p.Val1780= | |
| XM_011517559.1:c.4548T>C | XP_011515861.1:p.Val1516= | |
| XM_011517553.2:c.7803T>C | XP_011515855.1:p.Val2601= | |
| XM_011517554.3:c.7803T>C | XP_011515856.1:p.Val2601= | |
| XM_011517555.2:c.7800T>C | XP_011515857.1:p.Val2600= | |
| XM_017013612.1:c.7803T>C | XP_016869101.1:p.Val2601= | |
| XM_017013613.1:c.7710T>C | XP_016869102.1:p.Val2570= | |
| NM_017780.4:c.7713T>C MANE Select | NP_060250.2:p.Val2571= |