Linked Data
ClinVar Variation Id:
204075
ClinVar RCV Id:
RCV000186281
dbSNP Id:
rs180177172
gnomAD v4:
2-240868995-C-T
PubMed:
PMID:10453743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868995C>T , CM000664.2:g.240868995C>T | GRCh38 |
| NC_000002.11:g.241808412C>T , CM000664.1:g.241808412C>T | GRCh37 |
| NC_000002.10:g.241457085C>T | NCBI36 |
| NG_008005.1:g.5251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.130C>T MANE Select | ENSP00000302620.3:p.Gln44Ter | |
| ENST00000307503.3:c.130C>T | ENSP00000302620.3:p.Gln44Ter | |
| ENST00000472436.1:n.150C>T | ||
| NM_000030.2:c.130C>T | NP_000021.1:p.Gln44Ter | |
| XR_924060.1:n.405+1238G>A | ||
| NM_000030.3:c.130C>T MANE Select | NP_000021.1:p.Gln44Ter |