Linked Data
ClinVar Variation Id:
222985
ClinVar RCV Id:
RCV000208591
dbSNP Id:
rs200446614
ExAC:
19:56544053 C / T
gnomAD v2:
19-56544053-C-T
gnomAD v3:
19-56032687-C-T
gnomAD v4:
19-56032687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56032687C>T , CM000681.2:g.56032687C>T | GRCh38 |
| NC_000019.9:g.56544053C>T , CM000681.1:g.56544053C>T | GRCh37 |
| NC_000019.8:g.61235865C>T | NCBI36 |
| NG_046924.1:g.50905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000390649.8:c.2353C>T MANE Select | ENSP00000375063.3:p.Gln785Ter | |
| ENST00000390649.7:c.2353C>T | ENSP00000375063.3:p.Gln785Ter | |
| ENST00000621651.4:c.2353C>T | ENSP00000481137.1:p.Gln785Ter | |
| NM_153447.4:c.2353C>T MANE Select | NP_703148.4:p.Gln785Ter | |
| XM_011526444.1:c.2200C>T | XP_011524746.1:p.Gln734Ter |