Linked Data
ClinVar Variation Id:
426195
dbSNP Id:
rs1085307492
gnomAD v2:
19-36486198-C-T
gnomAD v4:
19-35995296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35995296C>T , CM000681.2:g.35995296C>T | GRCh38 |
| NC_000019.9:g.36486198C>T , CM000681.1:g.36486198C>T | GRCh37 |
| NC_000019.8:g.41178038C>T | NCBI36 |
| NG_016869.1:g.5109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378887.4:c.22C>T MANE Select | ENSP00000368165.2:p.Gln8Ter | |
| ENST00000378887.3:c.22C>T | ENSP00000368165.2:p.Gln8Ter | |
| NM_001042631.2:c.22C>T | NP_001036096.1:p.Gln8Ter | |
| NM_001042631.3:c.22C>T MANE Select | NP_001036096.2:p.Gln8Ter |