Linked Data
ClinVar Variation Id:
330519
ClinVar RCV Id:
RCV000291991
dbSNP Id:
rs748049105
ExAC:
19:7606913 T / C
gnomAD v2:
19-7606913-T-C
gnomAD v3:
19-7542027-T-C
gnomAD v4:
19-7542027-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7542027T>C , CM000681.2:g.7542027T>C | GRCh38 |
| NC_000019.9:g.7606913T>C , CM000681.1:g.7606913T>C | GRCh37 |
| NC_000019.8:g.7512913T>C | NCBI36 |
| NG_013374.1:g.12876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.1212T>C MANE Select | ENSP00000473211.1:p.Pro404= | |
| ENST00000221249.10:c.1095T>C | ENSP00000221249.5:p.Pro365= | |
| ENST00000414982.7:c.1239T>C | ENSP00000407509.2:p.Pro413= | |
| ENST00000450331.7:c.1095T>C | ENSP00000394348.2:p.Pro365= | |
| ENST00000545201.6:c.1095T>C | ENSP00000443323.1:p.Pro365= | |
| ENST00000595176.5:n.281T>C | ||
| ENST00000595264.5:c.690+343T>C | ||
| ENST00000599311.5:n.247T>C | ||
| ENST00000600737.5:c.1212T>C | ENSP00000473211.1:p.Pro404= | |
| NM_001166111.1:c.1239T>C | NP_001159583.1:p.Pro413= | |
| NM_001166112.1:c.1095T>C | NP_001159584.1:p.Pro365= | |
| NM_001166113.1:c.1095T>C | NP_001159585.1:p.Pro365= | |
| NM_001166114.1:c.1212T>C | NP_001159586.1:p.Pro404= | |
| NM_006702.4:c.1095T>C | NP_006693.3:p.Pro365= | |
| NM_001166111.2:c.1239T>C | NP_001159583.1:p.Pro413= | |
| NM_001166114.2:c.1212T>C MANE Select | NP_001159586.1:p.Pro404= | |
| NM_006702.5:c.1095T>C | NP_006693.3:p.Pro365= | |
| NM_001166112.2:c.1095T>C | NP_001159584.1:p.Pro365= |