Linked Data
ClinVar Variation Id:
204099
ClinVar RCV Id:
RCV000186305
dbSNP Id:
rs180177214
gnomAD v4:
2-240870694-C-T
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240870694C>T , CM000664.2:g.240870694C>T | GRCh38 |
| NC_000002.11:g.241810111C>T , CM000664.1:g.241810111C>T | GRCh37 |
| NC_000002.10:g.241458784C>T | NCBI36 |
| NG_008005.1:g.6950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.409C>T MANE Select | ENSP00000302620.3:p.Gln137Ter | |
| ENST00000307503.3:c.409C>T | ENSP00000302620.3:p.Gln137Ter | |
| ENST00000472436.1:n.429C>T | ||
| NM_000030.2:c.409C>T | NP_000021.1:p.Gln137Ter | |
| NM_000030.3:c.409C>T MANE Select | NP_000021.1:p.Gln137Ter |