Linked Data
ClinVar Variation Id:
204159
dbSNP Id:
rs180177281
ExAC:
2:241815422 G / T
gnomAD v2:
2-241815422-G-T
gnomAD v3:
2-240876005-G-T
gnomAD v4:
2-240876005-G-T
PubMed:
PMID:15110324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240876005G>T , CM000664.2:g.240876005G>T | GRCh38 |
| NC_000002.11:g.241815422G>T , CM000664.1:g.241815422G>T | GRCh37 |
| NC_000002.10:g.241464095G>T | NCBI36 |
| NG_008005.1:g.12261G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.846+1G>T MANE Select | ENSP00000302620.3:n.846+1G>T | |
| ENST00000307503.3:c.846+1G>T | ENSP00000302620.3:n.846+1G>T | |
| ENST00000476698.1:n.499G>T | ||
| NM_000030.2:c.846+1G>T | NP_000021.1:n.846+1G>T | |
| NM_000030.3:c.846+1G>T MANE Select | NP_000021.1:n.846+1G>T |