Linked Data
ClinVar Variation Id:
1941832
ClinVar RCV Id:
RCV002643332
dbSNP Id:
rs750723712
ExAC:
9:35094251 G / A
gnomAD v2:
9-35094251-G-A
gnomAD v3:
9-35094254-G-A
gnomAD v4:
9-35094254-G-A
COSMIC:
COSM6406114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35094254G>A , CM000671.2:g.35094254G>A | GRCh38 |
| NC_000009.11:g.35094251G>A , CM000671.1:g.35094251G>A | GRCh37 |
| NC_000009.10:g.35084251G>A | NCBI36 |
| NG_031990.1:g.7348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.617C>T | ENSP00000354678.2:p.Thr206Ile | |
| ENST00000700254.1:c.617C>T | ENSP00000514892.1:p.Thr206Ile | |
| ENST00000700255.1:c.617C>T | ENSP00000514893.1:p.Thr206Ile | |
| ENST00000700256.1:n.649C>T | ||
| ENST00000700257.1:c.617C>T | ENSP00000514894.1:p.Thr206Ile | |
| ENST00000700259.1:c.617C>T | ENSP00000514895.1:p.Thr206Ile | |
| ENST00000700260.1:c.617C>T | ENSP00000514896.1:p.Thr206Ile | |
| ENST00000700261.1:c.617C>T | ENSP00000514897.1:p.Thr206Ile | |
| ENST00000700262.1:c.617C>T | ENSP00000514898.1:p.Thr206Ile | |
| ENST00000700263.1:c.617C>T | ENSP00000514899.1:p.Thr206Ile | |
| ENST00000700264.1:c.617C>T | ENSP00000514900.1:p.Thr206Ile | |
| ENST00000378617.4:c.617C>T MANE Select | ENSP00000367880.3:p.Thr206Ile | |
| ENST00000298004.9:c.617C>T | ENSP00000298004.5:p.Thr206Ile | |
| ENST00000361778.6:c.617C>T | ENSP00000354678.2:p.Thr206Ile | |
| ENST00000378617.3:c.617C>T | ENSP00000367880.3:p.Thr206Ile | |
| ENST00000465745.6:n.634C>T | ||
| ENST00000472208.1:n.718C>T | ||
| ENST00000474436.1:n.1602C>T | ||
| NM_001201484.1:c.617C>T | NP_001188413.1:p.Thr206Ile | |
| NM_032634.3:c.617C>T | NP_116023.2:p.Thr206Ile | |
| NM_152850.3:c.617C>T | NP_690577.2:p.Thr206Ile | |
| XM_005251619.2:c.617C>T | XP_005251676.1:p.Thr206Ile | |
| XM_011518056.1:c.617C>T | XP_011516358.1:p.Thr206Ile | |
| XR_242515.1:n.638C>T | ||
| XM_005251619.3:c.617C>T | XP_005251676.1:p.Thr206Ile | |
| XM_017015222.2:c.617C>T | XP_016870711.1:p.Thr206Ile | |
| XM_017015223.1:c.617C>T | XP_016870712.1:p.Thr206Ile | |
| XM_017015224.1:c.617C>T | XP_016870713.1:p.Thr206Ile | |
| XR_001746390.1:n.1040C>T | ||
| XR_001746391.2:n.638C>T | ||
| XR_242515.3:n.638C>T | ||
| NM_032634.4:c.617C>T MANE Select | NP_116023.2:p.Thr206Ile | |
| NM_001201484.2:c.617C>T | NP_001188413.1:p.Thr206Ile | |
| NM_152850.4:c.617C>T | NP_690577.2:p.Thr206Ile |