Linked Data
ClinVar Variation Id:
330536
dbSNP Id:
rs35770729
ExAC:
19:7623887 T / C
gnomAD v2:
19-7623887-T-C
gnomAD v3:
19-7559001-T-C
gnomAD v4:
19-7559001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7559001T>C , CM000681.2:g.7559001T>C | GRCh38 |
| NC_000019.9:g.7623887T>C , CM000681.1:g.7623887T>C | GRCh37 |
| NC_000019.8:g.7529887T>C | NCBI36 |
| NG_013374.1:g.29850T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3549T>C MANE Select | ENSP00000473211.1:p.Val1183= | |
| ENST00000221249.10:c.3435T>C | ENSP00000221249.5:p.Val1145= | |
| ENST00000414982.7:c.3579T>C | ENSP00000407509.2:p.Val1193= | |
| ENST00000450331.7:c.3435T>C | ENSP00000394348.2:p.Val1145= | |
| ENST00000545201.6:c.3354T>C | ENSP00000443323.1:p.Val1118= | |
| ENST00000599947.1:c.35T>C | ||
| ENST00000600737.5:c.3549T>C | ENSP00000473211.1:p.Val1183= | |
| NM_001166111.1:c.3579T>C | NP_001159583.1:p.Val1193= | |
| NM_001166112.1:c.3354T>C | NP_001159584.1:p.Val1118= | |
| NM_001166113.1:c.3435T>C | NP_001159585.1:p.Val1145= | |
| NM_001166114.1:c.3549T>C | NP_001159586.1:p.Val1183= | |
| NM_006702.4:c.3435T>C | NP_006693.3:p.Val1145= | |
| NM_001166111.2:c.3579T>C | NP_001159583.1:p.Val1193= | |
| NM_001166114.2:c.3549T>C MANE Select | NP_001159586.1:p.Val1183= | |
| NM_006702.5:c.3435T>C | NP_006693.3:p.Val1145= | |
| NM_001166112.2:c.3354T>C | NP_001159584.1:p.Val1118= |