Linked Data
ClinVar Variation Id:
166940
dbSNP Id:
rs536696110
ExAC:
2:238269821 A / C
gnomAD v2:
2-238269821-A-C
gnomAD v3:
2-237361178-A-C
gnomAD v4:
2-237361178-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237361178A>C , CM000664.2:g.237361178A>C | GRCh38 |
| NC_000002.11:g.238269821A>C , CM000664.1:g.238269821A>C | GRCh37 |
| NC_000002.10:g.237934560A>C | NCBI36 |
| NG_008676.1:g.58030T>G , LRG_473:g.58030T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5539-4T>G | ENSP00000315873.4:n.5539-4T>G | |
| ENST00000295550.9:c.6157-4T>G MANE Select | ENSP00000295550.4:n.6157-4T>G | |
| ENST00000295550.8:c.6157-4T>G | ENSP00000295550.4:n.6157-4T>G | |
| ENST00000347401.7:c.4336-4T>G | ENSP00000315609.4:n.4336-4T>G | |
| ENST00000353578.8:c.5539-4T>G | ENSP00000315873.4:n.5539-4T>G | |
| ENST00000409809.5:c.5539-4T>G | ENSP00000386844.1:n.5539-4T>G | |
| ENST00000472056.5:c.4336-4T>G | ENSP00000418285.1:n.4336-4T>G | |
| NM_004369.3:c.6157-4T>G , LRG_473t1:c.6157-4T>G | NP_004360.2:n.6157-4T>G | |
| NM_057166.4:c.4336-4T>G | NP_476507.3:n.4336-4T>G | |
| NM_057167.3:c.5539-4T>G | NP_476508.2:n.5539-4T>G | |
| XM_005246065.1:c.5557-4T>G | XP_005246122.1:n.5557-4T>G | |
| XM_005246066.1:c.4936-4T>G | XP_005246123.1:n.4936-4T>G | |
| XM_006712253.1:c.5656-4T>G | XP_006712316.1:n.5656-4T>G | |
| XM_011510574.1:c.6154-4T>G | XP_011508876.1:n.6154-4T>G | |
| XM_011510575.1:c.3751-4T>G | XP_011508877.1:n.3751-4T>G | |
| XM_017003304.1:c.3751-4T>G | XP_016858793.1:n.3751-4T>G | |
| XM_024452684.1:c.4936-4T>G | XP_024308452.1:n.4936-4T>G | |
| NM_004369.4:c.6157-4T>G MANE Select | NP_004360.2:n.6157-4T>G | |
| NM_057166.5:c.4336-4T>G | NP_476507.3:n.4336-4T>G | |
| NM_057167.4:c.5539-4T>G | NP_476508.2:n.5539-4T>G |