Linked Data
ClinVar Variation Id:
827593
ClinVar RCV Id:
RCV001027414
dbSNP Id:
rs1599996938
gnomAD v4:
19-50860131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860131C>T , CM000681.2:g.50860131C>T | GRCh38 |
| NC_000019.9:g.51363387C>T , CM000681.1:g.51363387C>T | GRCh37 |
| NC_000019.8:g.56055199C>T | NCBI36 |
| NG_011653.1:g.10217C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.*4C>T MANE Select | ENSP00000314151.1:n.*4C>T | |
| ENST00000326003.6:c.*4C>T | ENSP00000314151.1:n.*4C>T | |
| ENST00000360617.7:c.1232C>T | ENSP00000353829.2:n.1232C>T | |
| ENST00000422986.6:c.*446C>T | ENSP00000393628.2:n.*446C>T | |
| ENST00000595392.5:c.*291C>T | ENSP00000468912.1:n.*291C>T | |
| ENST00000595952.5:c.*4C>T | ENSP00000471155.1:n.*4C>T | |
| ENST00000596333.1:n.968C>T | ||
| ENST00000598145.1:c.792C>T | ||
| ENST00000601349.5:n.2069C>T | ||
| ENST00000617027.4:c.*4C>T | ENSP00000483513.1:n.*4C>T | |
| NM_001030047.1:c.*515C>T | NP_001025218.1:n.*515C>T | |
| NM_001030048.1:c.*4C>T | NP_001025219.1:n.*4C>T | |
| NM_001648.2:c.*4C>T MANE Select | NP_001639.1:n.*4C>T | |
| XM_011526923.1:c.*4C>T | XP_011525225.1:n.*4C>T | |
| XR_935817.1:n.1324+877C>T |