Linked Data
ClinVar Variation Id:
162498
dbSNP Id:
rs373842615
ExAC:
9:130581941 T / C
gnomAD v2:
9-130581941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127819662T>C , CM000671.2:g.127819662T>C | GRCh38 |
| NC_000009.11:g.130581941T>C , CM000671.1:g.130581941T>C | GRCh37 |
| NC_000009.10:g.129621762T>C | NCBI36 |
| NG_009551.1:g.40107A>G , LRG_589:g.40107A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.727-2A>G | ENSP00000479015.1:n.727-2A>G | |
| ENST00000373203.9:c.1273-2A>G MANE Select | ENSP00000362299.4:n.1273-2A>G | |
| ENST00000344849.4:c.1273-2A>G | ENSP00000341917.3:n.1273-2A>G | |
| ENST00000373203.8:c.1273-2A>G | ENSP00000362299.4:n.1273-2A>G | |
| ENST00000480266.5:c.727-2A>G | ENSP00000479015.1:n.727-2A>G | |
| ENST00000486329.1:n.241-2A>G | ||
| NM_000118.3:c.1273-2A>G , LRG_589t1:c.1273-2A>G | NP_000109.1:n.1273-2A>G | |
| NM_001114753.2:c.1273-2A>G , LRG_589t2:c.1273-2A>G | NP_001108225.1:n.1273-2A>G | |
| NM_001278138.1:c.727-2A>G | NP_001265067.1:n.727-2A>G | |
| NR_136302.1:n.1568+951T>C | ||
| NM_001114753.3:c.1273-2A>G MANE Select | NP_001108225.1:n.1273-2A>G | |
| NM_001278138.2:c.727-2A>G | NP_001265067.1:n.727-2A>G |