Linked Data
ClinVar Variation Id:
501815
dbSNP Id:
rs189411873
ExAC:
2:238277196 C / T
gnomAD v2:
2-238277196-C-T
gnomAD v3:
2-237368553-C-T
gnomAD v4:
2-237368553-C-T
COSMIC:
COSM6307061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237368553C>T , CM000664.2:g.237368553C>T | GRCh38 |
| NC_000002.11:g.238277196C>T , CM000664.1:g.238277196C>T | GRCh37 |
| NC_000002.10:g.237941935C>T | NCBI36 |
| NG_008676.1:g.50655G>A , LRG_473:g.50655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4282+10G>A | ENSP00000315873.4:n.4282+10G>A | |
| ENST00000684597.1:c.230+10G>A | ||
| ENST00000295550.9:c.4900+10G>A MANE Select | ENSP00000295550.4:n.4900+10G>A | |
| ENST00000295550.8:c.4900+10G>A | ENSP00000295550.4:n.4900+10G>A | |
| ENST00000347401.7:c.3079+10G>A | ENSP00000315609.4:n.3079+10G>A | |
| ENST00000353578.8:c.4282+10G>A | ENSP00000315873.4:n.4282+10G>A | |
| ENST00000409809.5:c.4282+10G>A | ENSP00000386844.1:n.4282+10G>A | |
| ENST00000472056.5:c.3079+10G>A | ENSP00000418285.1:n.3079+10G>A | |
| NM_004369.3:c.4900+10G>A , LRG_473t1:c.4900+10G>A | NP_004360.2:n.4900+10G>A | |
| NM_057166.4:c.3079+10G>A | NP_476507.3:n.3079+10G>A | |
| NM_057167.3:c.4282+10G>A | NP_476508.2:n.4282+10G>A | |
| XM_005246065.1:c.4300+10G>A | XP_005246122.1:n.4300+10G>A | |
| XM_005246066.1:c.3679+10G>A | XP_005246123.1:n.3679+10G>A | |
| XM_006712253.1:c.4399+10G>A | XP_006712316.1:n.4399+10G>A | |
| XM_011510574.1:c.4897+10G>A | XP_011508876.1:n.4897+10G>A | |
| XM_011510575.1:c.2494+10G>A | XP_011508877.1:n.2494+10G>A | |
| XM_017003304.1:c.2494+10G>A | XP_016858793.1:n.2494+10G>A | |
| XM_024452684.1:c.3679+10G>A | XP_024308452.1:n.3679+10G>A | |
| NM_004369.4:c.4900+10G>A MANE Select | NP_004360.2:n.4900+10G>A | |
| NM_057166.5:c.3079+10G>A | NP_476507.3:n.3079+10G>A | |
| NM_057167.4:c.4282+10G>A | NP_476508.2:n.4282+10G>A |