Linked Data
ClinVar Variation Id:
13219
dbSNP Id:
rs28933390
ExAC:
3:165547569 C / A
gnomAD v2:
3-165547569-C-A
gnomAD v3:
3-165829781-C-A
gnomAD v4:
3-165829781-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829781C>A , CM000665.2:g.165829781C>A | GRCh38 |
| NC_000003.11:g.165547569C>A , CM000665.1:g.165547569C>A | GRCh37 |
| NC_000003.10:g.167030263C>A | NCBI36 |
| NG_009031.1:g.12685G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1253G>T MANE Select | ENSP00000264381.3:p.Gly418Val | |
| ENST00000264381.7:c.1253G>T | ENSP00000264381.3:p.Gly418Val | |
| ENST00000479451.5:c.107+7533G>T | ENSP00000418325.1:n.107+7533G>T | |
| ENST00000482958.1:c.1253G>T | ENSP00000419804.1:p.Gly418Val | |
| ENST00000488954.1:c.107+7533G>T | ENSP00000418504.1:n.107+7533G>T | |
| ENST00000497011.5:c.1253G>T | ENSP00000419505.1:p.Gly418Val | |
| NM_000055.2:c.1253G>T | NP_000046.1:p.Gly418Val | |
| XM_005247685.1:c.1376G>T | XP_005247742.1:p.Gly459Val | |
| NM_000055.3:c.1253G>T | NP_000046.1:p.Gly418Val | |
| NR_137635.1:n.159+7533G>T | ||
| NR_137636.1:n.1420G>T | ||
| NM_000055.4:c.1253G>T MANE Select | NP_000046.1:p.Gly418Val | |
| NR_137635.2:n.110+7533G>T | ||
| NR_137636.2:n.1371G>T |