Linked Data
ClinVar Variation Id:
330534
ClinVar RCV Id:
RCV000384874
dbSNP Id:
rs370597983
ExAC:
19:7622181 G / T
gnomAD v2:
19-7622181-G-T
gnomAD v3:
19-7557295-G-T
gnomAD v4:
19-7557295-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7557295G>T , CM000681.2:g.7557295G>T | GRCh38 |
| NC_000019.9:g.7622181G>T , CM000681.1:g.7622181G>T | GRCh37 |
| NC_000019.8:g.7528181G>T | NCBI36 |
| NG_013374.1:g.28144G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3397+11G>T MANE Select | ENSP00000473211.1:n.3397+11G>T | |
| ENST00000646984.1:c.568+213G>T | ENSP00000496219.1:n.568+213G>T | |
| ENST00000221249.10:c.3283+11G>T | ENSP00000221249.5:n.3283+11G>T | |
| ENST00000414982.7:c.3427+11G>T | ENSP00000407509.2:n.3427+11G>T | |
| ENST00000450331.7:c.3283+11G>T | ENSP00000394348.2:n.3283+11G>T | |
| ENST00000545201.6:c.3202+11G>T | ENSP00000443323.1:n.3202+11G>T | |
| ENST00000595352.1:n.339G>T | ||
| ENST00000600737.5:c.3397+11G>T | ENSP00000473211.1:n.3397+11G>T | |
| NM_001166111.1:c.3427+11G>T | NP_001159583.1:n.3427+11G>T | |
| NM_001166112.1:c.3202+11G>T | NP_001159584.1:n.3202+11G>T | |
| NM_001166113.1:c.3283+11G>T | NP_001159585.1:n.3283+11G>T | |
| NM_001166114.1:c.3397+11G>T | NP_001159586.1:n.3397+11G>T | |
| NM_006702.4:c.3283+11G>T | NP_006693.3:n.3283+11G>T | |
| NM_001166111.2:c.3427+11G>T | NP_001159583.1:n.3427+11G>T | |
| NM_001166114.2:c.3397+11G>T MANE Select | NP_001159586.1:n.3397+11G>T | |
| NM_006702.5:c.3283+11G>T | NP_006693.3:n.3283+11G>T | |
| NM_001166112.2:c.3202+11G>T | NP_001159584.1:n.3202+11G>T |