Linked Data
ClinVar Variation Id:
95004
dbSNP Id:
rs398124136
ExAC:
2:238249075 C / G
gnomAD v2:
2-238249075-C-G
gnomAD v3:
2-237340432-C-G
gnomAD v4:
2-237340432-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340432C>G , CM000664.2:g.237340432C>G | GRCh38 |
| NC_000002.11:g.238249075C>G , CM000664.1:g.238249075C>G | GRCh37 |
| NC_000002.10:g.237913814C>G | NCBI36 |
| NG_008676.1:g.78776G>C , LRG_473:g.78776G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1109+20G>C | ||
| ENST00000353578.9:c.7846+20G>C | ENSP00000315873.4:n.7846+20G>C | |
| ENST00000682957.1:c.467+20G>C | ||
| ENST00000684508.1:n.731+20G>C | ||
| ENST00000295550.9:c.8464+20G>C MANE Select | ENSP00000295550.4:n.8464+20G>C | |
| ENST00000295550.8:c.8464+20G>C | ENSP00000295550.4:n.8464+20G>C | |
| ENST00000347401.7:c.6640+20G>C | ENSP00000315609.4:n.6640+20G>C | |
| ENST00000353578.8:c.7846+20G>C | ENSP00000315873.4:n.7846+20G>C | |
| ENST00000409809.5:c.7846+20G>C | ENSP00000386844.1:n.7846+20G>C | |
| ENST00000468792.1:n.151+20G>C | ||
| ENST00000472056.5:c.6643+20G>C | ENSP00000418285.1:n.6643+20G>C | |
| ENST00000491769.1:n.4906+20G>C | ||
| NM_004369.3:c.8464+20G>C , LRG_473t1:c.8464+20G>C | NP_004360.2:n.8464+20G>C | |
| NM_057166.4:c.6643+20G>C | NP_476507.3:n.6643+20G>C | |
| NM_057167.3:c.7846+20G>C | NP_476508.2:n.7846+20G>C | |
| XM_005246065.1:c.7864+20G>C | XP_005246122.1:n.7864+20G>C | |
| XM_005246066.1:c.7243+20G>C | XP_005246123.1:n.7243+20G>C | |
| XM_006712253.1:c.7963+20G>C | XP_006712316.1:n.7963+20G>C | |
| XM_011510574.1:c.8461+20G>C | XP_011508876.1:n.8461+20G>C | |
| XM_011510575.1:c.6058+20G>C | XP_011508877.1:n.6058+20G>C | |
| XM_017003304.1:c.6058+20G>C | XP_016858793.1:n.6058+20G>C | |
| XM_024452684.1:c.7243+20G>C | XP_024308452.1:n.7243+20G>C | |
| NM_004369.4:c.8464+20G>C MANE Select | NP_004360.2:n.8464+20G>C | |
| NM_057166.5:c.6643+20G>C | NP_476507.3:n.6643+20G>C | |
| NM_057167.4:c.7846+20G>C | NP_476508.2:n.7846+20G>C |