Linked Data
ClinVar Variation Id:
324420
dbSNP Id:
rs144242912
ExAC:
17:61574607 C / T
gnomAD v2:
17-61574607-C-T
gnomAD v3:
17-63497246-C-T
gnomAD v4:
17-63497246-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497246C>T , CM000679.2:g.63497246C>T | GRCh38 |
| NC_000017.10:g.61574607C>T , CM000679.1:g.61574607C>T | GRCh37 |
| NC_000017.9:g.58928339C>T | NCBI36 |
| NG_011648.1:g.25174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3801C>T MANE Select | ENSP00000290866.4:p.Ile1267= | |
| ENST00000290863.10:c.2079C>T | ENSP00000290863.6:p.Ile693= | |
| ENST00000290866.9:c.3801C>T | ENSP00000290866.4:p.Ile1267= | |
| ENST00000413513.7:c.1956C>T | ENSP00000392247.3:p.Ile652= | |
| ENST00000428043.5:c.*223C>T | ENSP00000397593.2:n.*223C>T | |
| ENST00000577647.2:c.1969+261C>T | ENSP00000464149.1:n.1969+261C>T | |
| ENST00000578839.5:c.*1556C>T | ENSP00000462110.2:n.*1556C>T | |
| ENST00000579314.5:c.*1530C>T | ENSP00000462599.1:n.*1530C>T | |
| NM_000789.3:c.3801C>T | NP_000780.1:p.Ile1267= | |
| NM_001178057.1:c.1956C>T | NP_001171528.1:p.Ile652= | |
| NM_152830.2:c.2079C>T | NP_690043.1:p.Ile693= | |
| XM_005257110.1:c.3252C>T | XP_005257167.1:p.Ile1084= | |
| XM_006721737.2:c.2139C>T | XP_006721800.2:p.Ile713= | |
| XM_006721737.3:c.2139C>T | XP_006721800.2:p.Ile713= | |
| NM_000789.4:c.3801C>T MANE Select | NP_000780.1:p.Ile1267= | |
| NM_001178057.2:c.1956C>T | NP_001171528.1:p.Ile652= | |
| NM_152830.3:c.2079C>T | NP_690043.1:p.Ile693= | |
| NM_001382700.1:c.3234C>T | NP_001369629.1:p.Ile1078= | |
| NM_001382701.1:c.2949C>T | NP_001369630.1:p.Ile983= | |
| NM_001382702.1:c.1416C>T | NP_001369631.1:p.Ile472= | |
| NR_168483.1:n.2179C>T |