Linked Data
ClinVar Variation Id:
408
ClinVar RCV Id:
RCV000000435
dbSNP Id:
rs137852796
ExAC:
3:126229555 A / G
gnomAD v2:
3-126229555-A-G
gnomAD v3:
3-126510712-A-G
gnomAD v4:
3-126510712-A-G
PubMed:
PMID:19304569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126510712A>G , CM000665.2:g.126510712A>G | GRCh38 |
| NC_000003.11:g.126229555A>G , CM000665.1:g.126229555A>G | GRCh37 |
| NC_000003.10:g.127712245A>G | NCBI36 |
| NG_016286.1:g.12040T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290868.7:c.209T>C MANE Select | ENSP00000290868.2:p.Leu70Pro | |
| ENST00000290868.6:c.209T>C | ENSP00000290868.2:p.Leu70Pro | |
| ENST00000383579.3:c.209T>C | ENSP00000373073.3:p.Leu70Pro | |
| NM_001165974.1:c.209T>C | NP_001159446.1:p.Leu70Pro | |
| NM_144639.2:c.209T>C | NP_653240.1:p.Leu70Pro | |
| NM_144639.3:c.209T>C MANE Select | NP_653240.1:p.Leu70Pro | |
| NM_001165974.2:c.209T>C | NP_001159446.1:p.Leu70Pro |