Linked Data
ClinVar Variation Id:
204027
ClinVar RCV Id:
RCV000186231
dbSNP Id:
rs180177179
gnomAD v4:
2-240869116-C-T
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869116C>T , CM000664.2:g.240869116C>T | GRCh38 |
| NC_000002.11:g.241808533C>T , CM000664.1:g.241808533C>T | GRCh37 |
| NC_000002.10:g.241457206C>T | NCBI36 |
| NG_008005.1:g.5372C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-54C>T MANE Select | ENSP00000302620.3:n.166-54C>T | |
| ENST00000307503.3:c.166-54C>T | ENSP00000302620.3:n.166-54C>T | |
| ENST00000472436.1:n.186-54C>T | ||
| NM_000030.2:c.166-54C>T | NP_000021.1:n.166-54C>T | |
| XR_924060.1:n.405+1117G>A | ||
| NM_000030.3:c.166-54C>T MANE Select | NP_000021.1:n.166-54C>T |