Linked Data
ClinVar Variation Id:
458338
dbSNP Id:
rs763475207
ExAC:
9:130580616 A / G
gnomAD v2:
9-130580616-A-G
gnomAD v4:
9-127818337-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818337A>G , CM000671.2:g.127818337A>G | GRCh38 |
| NC_000009.11:g.130580616A>G , CM000671.1:g.130580616A>G | GRCh37 |
| NC_000009.10:g.129620437A>G | NCBI36 |
| NG_009551.1:g.41432T>C , LRG_589:g.41432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.923T>C | ENSP00000479015.1:p.Leu308Ser | |
| ENST00000373203.9:c.1469T>C MANE Select | ENSP00000362299.4:p.Leu490Ser | |
| ENST00000344849.4:c.1469T>C | ENSP00000341917.3:p.Leu490Ser | |
| ENST00000373203.8:c.1469T>C | ENSP00000362299.4:p.Leu490Ser | |
| ENST00000480266.5:c.923T>C | ENSP00000479015.1:p.Leu308Ser | |
| NM_000118.3:c.1469T>C , LRG_589t1:c.1469T>C | NP_000109.1:p.Leu490Ser | |
| NM_001114753.2:c.1469T>C , LRG_589t2:c.1469T>C | NP_001108225.1:p.Leu490Ser | |
| NM_001278138.1:c.923T>C | NP_001265067.1:p.Leu308Ser | |
| NR_136302.1:n.1404A>G | ||
| NM_001114753.3:c.1469T>C MANE Select | NP_001108225.1:p.Leu490Ser | |
| NM_001278138.2:c.923T>C | NP_001265067.1:p.Leu308Ser |