Linked Data
ClinVar Variation Id:
217496
ClinVar RCV Id:
RCV000201435
dbSNP Id:
rs863225120
gnomAD v4:
1-201361970-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201361970A>G , CM000663.2:g.201361970A>G | GRCh38 |
| NC_000001.10:g.201331098A>G , CM000663.1:g.201331098A>G | GRCh37 |
| NC_000001.9:g.199597721A>G | NCBI36 |
| NG_007556.1:g.20708T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455702.7:c.647T>C | ENSP00000402238.3:p.Ile216Thr | |
| ENST00000367318.10:c.632T>C | ENSP00000356287.5:p.Ile211Thr | |
| ENST00000367322.6:c.620T>C | ENSP00000356291.2:p.Ile207Thr | |
| ENST00000412633.3:c.623T>C | ENSP00000408731.2:p.Ile208Thr | |
| ENST00000422165.6:c.653T>C | ENSP00000395163.2:p.Ile218Thr | |
| ENST00000438742.6:c.611T>C | ENSP00000414036.2:p.Ile204Thr | |
| ENST00000455702.6:c.647T>C | ENSP00000402238.2:p.Ile216Thr | |
| ENST00000651504.1:n.1123T>C | ||
| ENST00000656932.1:c.662T>C MANE Select | ENSP00000499593.1:p.Ile221Thr | |
| ENST00000658476.1:c.632T>C | ENSP00000499741.1:p.Ile211Thr | |
| ENST00000660295.1:c.632T>C | ENSP00000499418.1:p.Ile211Thr | |
| ENST00000662159.1:c.*21T>C | ENSP00000499796.1:n.*21T>C | |
| ENST00000663843.1:c.*562T>C | ENSP00000499590.1:n.*562T>C | |
| ENST00000666449.1:c.632T>C | ENSP00000499667.1:p.Ile211Thr | |
| ENST00000236918.11:c.662T>C | ENSP00000236918.8:p.Ile221Thr | |
| ENST00000360372.8:c.533T>C | ENSP00000353535.5:p.Ile178Thr | |
| ENST00000367315.6:c.641T>C | ENSP00000356284.3:p.Ile214Thr | |
| ENST00000367317.8:c.614T>C | ENSP00000356286.5:p.Ile205Thr | |
| ENST00000367318.9:c.632T>C | ENSP00000356287.5:p.Ile211Thr | |
| ENST00000367320.6:c.533T>C | ENSP00000356289.2:p.Ile178Thr | |
| ENST00000367322.5:c.623T>C | ENSP00000356291.1:p.Ile208Thr | |
| ENST00000421663.6:c.446T>C | ENSP00000404134.3:p.Ile149Thr | |
| ENST00000438742.5:c.614T>C | ENSP00000414036.1:p.Ile205Thr | |
| ENST00000458432.6:c.446T>C | ENSP00000387874.3:p.Ile149Thr | |
| ENST00000460780.5:n.955T>C | ||
| ENST00000476888.5:n.117T>C | ||
| ENST00000491504.5:n.1871T>C | ||
| ENST00000509001.5:c.632T>C | ENSP00000422031.1:p.Ile211Thr | |
| ENST00000515042.5:n.558T>C | ||
| NM_000364.3:c.653T>C | NP_000355.2:p.Ile218Thr | |
| NM_001001430.2:c.632T>C | NP_001001430.1:p.Ile211Thr | |
| NM_001001431.2:c.623T>C | NP_001001431.1:p.Ile208Thr | |
| NM_001001432.2:c.614T>C | NP_001001432.1:p.Ile205Thr | |
| NM_001276345.1:c.662T>C | NP_001263274.1:p.Ile221Thr | |
| NM_001276346.1:c.533T>C | NP_001263275.1:p.Ile178Thr | |
| NM_001276347.1:c.632T>C | NP_001263276.1:p.Ile211Thr | |
| XM_006711508.2:c.632T>C | XP_006711571.1:p.Ile211Thr | |
| XM_006711509.2:c.629T>C | XP_006711572.1:p.Ile210Thr | |
| XM_011509938.1:c.662T>C | XP_011508240.1:p.Ile221Thr | |
| XM_011509939.1:c.659T>C | XP_011508241.1:p.Ile220Thr | |
| XM_011509940.1:c.659T>C | XP_011508242.1:p.Ile220Thr | |
| XM_011509941.1:c.656T>C | XP_011508243.1:p.Ile219Thr | |
| XM_011509942.1:c.617T>C | XP_011508244.1:p.Ile206Thr | |
| XM_011509943.1:c.617T>C | XP_011508245.1:p.Ile206Thr | |
| XM_011509944.1:c.614T>C | XP_011508246.1:p.Ile205Thr | |
| XM_011509946.1:c.455T>C | XP_011508248.1:p.Ile152Thr | |
| XM_006711508.3:c.632T>C | XP_006711571.1:p.Ile211Thr | |
| XM_006711509.3:c.629T>C | XP_006711572.1:p.Ile210Thr | |
| XM_011509938.2:c.662T>C | XP_011508240.1:p.Ile221Thr | |
| XM_011509940.2:c.659T>C | XP_011508242.1:p.Ile220Thr | |
| XM_011509941.2:c.656T>C | XP_011508243.1:p.Ile219Thr | |
| XM_011509942.2:c.617T>C | XP_011508244.1:p.Ile206Thr | |
| XM_011509943.2:c.617T>C | XP_011508245.1:p.Ile206Thr | |
| XM_011509944.2:c.614T>C | XP_011508246.1:p.Ile205Thr | |
| XM_017002216.2:c.629T>C | XP_016857705.1:p.Ile210Thr | |
| XM_017002217.1:c.623T>C | XP_016857706.1:p.Ile208Thr | |
| XM_024449450.1:c.662T>C | XP_024305218.1:p.Ile221Thr | |
| XM_024449454.1:c.629T>C | XP_024305222.1:p.Ile210Thr | |
| XM_024449455.1:c.629T>C | XP_024305223.1:p.Ile210Thr | |
| NM_000364.4:c.653T>C | NP_000355.2:p.Ile218Thr | |
| NM_001001430.3:c.632T>C | NP_001001430.1:p.Ile211Thr | |
| NM_001001431.3:c.623T>C | NP_001001431.1:p.Ile208Thr | |
| NM_001001432.3:c.614T>C | NP_001001432.1:p.Ile205Thr | |
| NM_001276345.2:c.662T>C MANE Select | NP_001263274.1:p.Ile221Thr | |
| NM_001276346.2:c.533T>C | NP_001263275.1:p.Ile178Thr | |
| NM_001276347.2:c.632T>C | NP_001263276.1:p.Ile211Thr |