Linked Data
ClinVar Variation Id:
204138
ClinVar RCV Id:
RCV000186345
dbSNP Id:
rs180177296
gnomAD v4:
2-240877612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877612C>T , CM000664.2:g.240877612C>T | GRCh38 |
| NC_000002.11:g.241817029C>T , CM000664.1:g.241817029C>T | GRCh37 |
| NC_000002.10:g.241465702C>T | NCBI36 |
| NG_008005.1:g.13868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.922C>T MANE Select | ENSP00000302620.3:p.Gln308Ter | |
| ENST00000307503.3:c.922C>T | ENSP00000302620.3:p.Gln308Ter | |
| ENST00000470255.1:n.700C>T | ||
| NM_000030.2:c.922C>T | NP_000021.1:p.Gln308Ter | |
| NM_000030.3:c.922C>T MANE Select | NP_000021.1:p.Gln308Ter |