Linked Data
ClinVar Variation Id:
13228
ClinVar RCV Id:
RCV000014132
dbSNP Id:
rs104893684
ExAC:
3:165547818 A / G
gnomAD v2:
3-165547818-A-G
gnomAD v3:
3-165830030-A-G
gnomAD v4:
3-165830030-A-G
PubMed:
PMID:16788378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830030A>G , CM000665.2:g.165830030A>G | GRCh38 |
| NC_000003.11:g.165547818A>G , CM000665.1:g.165547818A>G | GRCh37 |
| NC_000003.10:g.167030512A>G | NCBI36 |
| NG_009031.1:g.12436T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1004T>C MANE Select | ENSP00000264381.3:p.Leu335Pro | |
| ENST00000264381.7:c.1004T>C | ENSP00000264381.3:p.Leu335Pro | |
| ENST00000479451.5:c.107+7284T>C | ENSP00000418325.1:n.107+7284T>C | |
| ENST00000482958.1:c.1004T>C | ENSP00000419804.1:p.Leu335Pro | |
| ENST00000488954.1:c.107+7284T>C | ENSP00000418504.1:n.107+7284T>C | |
| ENST00000497011.5:c.1004T>C | ENSP00000419505.1:p.Leu335Pro | |
| NM_000055.2:c.1004T>C | NP_000046.1:p.Leu335Pro | |
| XM_005247685.1:c.1127T>C | XP_005247742.1:p.Leu376Pro | |
| NM_000055.3:c.1004T>C | NP_000046.1:p.Leu335Pro | |
| NR_137635.1:n.159+7284T>C | ||
| NR_137636.1:n.1171T>C | ||
| NM_000055.4:c.1004T>C MANE Select | NP_000046.1:p.Leu335Pro | |
| NR_137635.2:n.110+7284T>C | ||
| NR_137636.2:n.1122T>C |