Linked Data
dbSNP Id:
rs374044223
ExAC:
8:61773500 T / C
gnomAD v2:
8-61773500-T-C
gnomAD v3:
8-60860941-T-C
gnomAD v4:
8-60860941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860941T>C , CM000670.2:g.60860941T>C | GRCh38 |
| NC_000008.10:g.61773500T>C , CM000670.1:g.61773500T>C | GRCh37 |
| NC_000008.9:g.61936054T>C | NCBI36 |
| NG_007009.1:g.187162T>C , LRG_176:g.187162T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.822T>C | ||
| ENST00000695851.1:n.26T>C | ||
| ENST00000695853.1:c.*705T>C | ENSP00000512218.1:n.*705T>C | |
| ENST00000423902.7:c.7646T>C MANE Select | ENSP00000392028.1:p.Ile2549Thr | |
| ENST00000423902.6:c.7646T>C | ENSP00000392028.1:p.Ile2549Thr | |
| ENST00000524602.5:c.1717-1288T>C | ENSP00000437061.1:n.1717-1288T>C | |
| ENST00000531695.1:n.70T>C | ||
| ENST00000618450.1:n.38T>C | ||
| NM_001316690.1:c.1717-1288T>C | NP_001303619.1:n.1717-1288T>C | |
| NM_017780.3:c.7646T>C | NP_060250.2:p.Ile2549Thr | |
| XM_011517553.1:c.7736T>C | XP_011515855.1:p.Ile2579Thr | |
| XM_011517554.1:c.7736T>C | XP_011515856.1:p.Ile2579Thr | |
| XM_011517555.1:c.7733T>C | XP_011515857.1:p.Ile2578Thr | |
| XM_011517556.1:c.7699-1255T>C | XP_011515858.1:n.7699-1255T>C | |
| XM_011517557.1:c.5723T>C | XP_011515859.1:p.Ile1908Thr | |
| XM_011517558.1:c.5273T>C | XP_011515860.1:p.Ile1758Thr | |
| XM_011517559.1:c.4481T>C | XP_011515861.1:p.Ile1494Thr | |
| XM_011517553.2:c.7736T>C | XP_011515855.1:p.Ile2579Thr | |
| XM_011517554.3:c.7736T>C | XP_011515856.1:p.Ile2579Thr | |
| XM_011517555.2:c.7733T>C | XP_011515857.1:p.Ile2578Thr | |
| XM_017013612.1:c.7736T>C | XP_016869101.1:p.Ile2579Thr | |
| XM_017013613.1:c.7643T>C | XP_016869102.1:p.Ile2548Thr | |
| NM_017780.4:c.7646T>C MANE Select | NP_060250.2:p.Ile2549Thr |