Linked Data
ClinVar Variation Id:
2007918
ClinVar RCV Id:
RCV002833469
dbSNP Id:
rs1170717159
gnomAD v2:
4-995927-C-T
gnomAD v3:
4-1002139-C-T
gnomAD v4:
4-1002139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002139C>T , CM000666.2:g.1002139C>T | GRCh38 |
| NC_000004.11:g.995927C>T , CM000666.1:g.995927C>T | GRCh37 |
| NC_000004.10:g.985927C>T | NCBI36 |
| NG_008103.1:g.20143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.950C>T | ENSP00000247933.4:p.Thr317Ile | |
| ENST00000514224.2:c.950C>T MANE Select | ENSP00000425081.2:p.Thr317Ile | |
| ENST00000652070.1:n.1006C>T | ||
| ENST00000247933.8:c.950C>T | ENSP00000247933.4:p.Thr317Ile | |
| ENST00000514224.1:c.554C>T | ENSP00000425081.1:p.Thr185Ile | |
| ENST00000514698.5:n.950C>T | ||
| NM_000203.4:c.950C>T | NP_000194.2:p.Thr317Ile | |
| NR_110313.1:n.1038C>T | ||
| XM_006713882.2:c.554C>T | XP_006713945.1:p.Thr185Ile | |
| XM_011513459.1:c.909C>T | XP_011511761.1:p.Asp303= | |
| XM_011513460.1:c.809C>T | XP_011511762.1:p.Thr270Ile | |
| XM_011513461.1:c.743C>T | XP_011511763.1:p.Thr248Ile | |
| XM_011513462.1:c.662C>T | XP_011511764.1:p.Thr221Ile | |
| XM_011513463.1:c.662C>T | XP_011511765.1:p.Thr221Ile | |
| XR_924947.1:n.1019C>T | ||
| NM_000203.5:c.950C>T MANE Select | NP_000194.2:p.Thr317Ile | |
| NM_001363576.1:c.554C>T | NP_001350505.1:p.Thr185Ile | |
| XM_011513461.2:c.743C>T | XP_011511763.1:p.Thr248Ile | |
| XM_017008163.1:c.-11C>T | XP_016863652.1:n.-11C>T |