Linked Data
ClinVar Variation Id:
468839
ClinVar RCV Id:
RCV000528684
dbSNP Id:
rs772625102
ExAC:
11:22294396 T / C
gnomAD v2:
11-22294396-T-C
gnomAD v3:
11-22272850-T-C
gnomAD v4:
11-22272850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272850T>C , CM000673.2:g.22272850T>C | GRCh38 |
| NC_000011.9:g.22294396T>C , CM000673.1:g.22294396T>C | GRCh37 |
| NC_000011.8:g.22250972T>C | NCBI36 |
| NG_015844.1:g.84675T>C , LRG_868:g.84675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.113T>C | ||
| ENST00000682266.1:c.1646T>C | ENSP00000507766.1:p.Ile549Thr | |
| ENST00000682341.1:c.2054T>C | ENSP00000508251.1:p.Ile685Thr | |
| ENST00000683197.1:c.2054T>C | ENSP00000507641.1:p.Ile685Thr | |
| ENST00000683411.1:c.1646T>C | ENSP00000508397.1:p.Ile549Thr | |
| ENST00000683437.1:c.1646T>C | ENSP00000508408.1:p.Ile549Thr | |
| ENST00000683613.1:n.3090T>C | ||
| ENST00000684663.1:c.2051T>C | ENSP00000508009.1:p.Ile684Thr | |
| ENST00000324559.9:c.2096T>C MANE Select | ENSP00000315371.9:p.Ile699Thr | |
| ENST00000648804.1:n.2431T>C | ||
| ENST00000324559.8:c.2096T>C | ENSP00000315371.8:p.Ile699Thr | |
| ENST00000532043.1:n.113T>C | ||
| NM_001142649.1:c.2093T>C | NP_001136121.1:p.Ile698Thr | |
| NM_213599.2:c.2096T>C , LRG_868t1:c.2096T>C | NP_998764.1:p.Ile699Thr | |
| XM_005252820.2:c.2054T>C | XP_005252877.2:p.Ile685Thr | |
| XM_005252821.2:c.2051T>C | XP_005252878.2:p.Ile684Thr | |
| XM_005252822.3:c.2018T>C | XP_005252879.1:p.Ile673Thr | |
| XM_005252823.3:c.2015T>C | XP_005252880.1:p.Ile672Thr | |
| XM_011519949.1:c.2003T>C | XP_011518251.1:p.Ile668Thr | |
| XM_005252820.3:c.2054T>C | XP_005252877.2:p.Ile685Thr | |
| XM_005252821.3:c.2051T>C | XP_005252878.2:p.Ile684Thr | |
| XM_005252822.4:c.2018T>C | XP_005252879.1:p.Ile673Thr | |
| XM_011519949.2:c.2003T>C | XP_011518251.1:p.Ile668Thr | |
| NM_001142649.2:c.2093T>C | NP_001136121.1:p.Ile698Thr | |
| NM_213599.3:c.2096T>C MANE Select | NP_998764.1:p.Ile699Thr |