Linked Data
ClinVar Variation Id:
363451
dbSNP Id:
rs552946889
ExAC:
8:61707637 C / T
gnomAD v2:
8-61707637-C-T
gnomAD v3:
8-60795078-C-T
gnomAD v4:
8-60795078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60795078C>T , CM000670.2:g.60795078C>T | GRCh38 |
| NC_000008.10:g.61707637C>T , CM000670.1:g.61707637C>T | GRCh37 |
| NC_000008.9:g.61870191C>T | NCBI36 |
| NG_007009.1:g.121299C>T , LRG_176:g.121299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695848.1:n.2702C>T | ||
| ENST00000695849.1:n.2702C>T | ||
| ENST00000695853.1:c.2189C>T | ENSP00000512218.1:p.Thr730Ile | |
| ENST00000423902.7:c.2189C>T MANE Select | ENSP00000392028.1:p.Thr730Ile | |
| ENST00000423902.6:c.2189C>T | ENSP00000392028.1:p.Thr730Ile | |
| ENST00000524602.5:c.1716+14028C>T | ENSP00000437061.1:n.1716+14028C>T | |
| ENST00000525508.1:c.2189C>T | ENSP00000436027.1:p.Thr730Ile | |
| ENST00000527900.1:c.210C>T | ENSP00000433336.1:n.210C>T | |
| NM_001316690.1:c.1716+14028C>T | NP_001303619.1:n.1716+14028C>T | |
| NM_017780.3:c.2189C>T | NP_060250.2:p.Thr730Ile | |
| XM_011517553.1:c.2189C>T | XP_011515855.1:p.Thr730Ile | |
| XM_011517554.1:c.2189C>T | XP_011515856.1:p.Thr730Ile | |
| XM_011517555.1:c.2189C>T | XP_011515857.1:p.Thr730Ile | |
| XM_011517556.1:c.2189C>T | XP_011515858.1:p.Thr730Ile | |
| XM_011517557.1:c.176C>T | XP_011515859.1:p.Thr59Ile | |
| XM_011517560.1:c.2189C>T | XP_011515862.1:p.Thr730Ile | |
| XM_011517553.2:c.2189C>T | XP_011515855.1:p.Thr730Ile | |
| XM_011517554.3:c.2189C>T | XP_011515856.1:p.Thr730Ile | |
| XM_011517555.2:c.2189C>T | XP_011515857.1:p.Thr730Ile | |
| XM_011517560.2:c.2189C>T | XP_011515862.1:p.Thr730Ile | |
| XM_017013612.1:c.2189C>T | XP_016869101.1:p.Thr730Ile | |
| XM_017013613.1:c.2189C>T | XP_016869102.1:p.Thr730Ile | |
| NM_017780.4:c.2189C>T MANE Select | NP_060250.2:p.Thr730Ile |