Linked Data
ClinVar Variation Id:
371104
ClinVar RCV Id:
RCV000409468
dbSNP Id:
rs760182781
ExAC:
3:165548383 G / A
gnomAD v2:
3-165548383-G-A
gnomAD v3:
3-165830595-G-A
gnomAD v4:
3-165830595-G-A
PubMed:
PMID:8601326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830595G>A , CM000665.2:g.165830595G>A | GRCh38 |
| NC_000003.11:g.165548383G>A , CM000665.1:g.165548383G>A | GRCh37 |
| NC_000003.10:g.167031077G>A | NCBI36 |
| NG_009031.1:g.11871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.439C>T MANE Select | ENSP00000264381.3:p.Gln147Ter | |
| ENST00000264381.7:c.439C>T | ENSP00000264381.3:p.Gln147Ter | |
| ENST00000479451.5:c.107+6719C>T | ENSP00000418325.1:n.107+6719C>T | |
| ENST00000482958.1:c.439C>T | ENSP00000419804.1:p.Gln147Ter | |
| ENST00000488954.1:c.107+6719C>T | ENSP00000418504.1:n.107+6719C>T | |
| ENST00000497011.5:c.439C>T | ENSP00000419505.1:p.Gln147Ter | |
| NM_000055.2:c.439C>T | NP_000046.1:p.Gln147Ter | |
| XM_005247685.1:c.562C>T | XP_005247742.1:p.Gln188Ter | |
| NM_000055.3:c.439C>T | NP_000046.1:p.Gln147Ter | |
| NR_137635.1:n.159+6719C>T | ||
| NR_137636.1:n.606C>T | ||
| NM_000055.4:c.439C>T MANE Select | NP_000046.1:p.Gln147Ter | |
| NR_137635.2:n.110+6719C>T | ||
| NR_137636.2:n.557C>T |