Linked Data
ClinVar Variation Id:
287794
dbSNP Id:
rs144291325
ExAC:
2:238234252 G / A
gnomAD v2:
2-238234252-G-A
gnomAD v3:
2-237325609-G-A
gnomAD v4:
2-237325609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325609G>A , CM000664.2:g.237325609G>A | GRCh38 |
| NC_000002.11:g.238234252G>A , CM000664.1:g.238234252G>A | GRCh37 |
| NC_000002.10:g.237898991G>A | NCBI36 |
| NG_008676.1:g.93599C>T , LRG_473:g.93599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1825C>T | ||
| ENST00000353578.9:c.8826C>T | ENSP00000315873.4:p.Asn2942= | |
| ENST00000682957.1:c.1571C>T | ||
| ENST00000683348.1:c.310C>T | ENSP00000508058.1:n.310C>T | |
| ENST00000295550.9:c.9444C>T MANE Select | ENSP00000295550.4:p.Asn3148= | |
| ENST00000295550.8:c.9444C>T | ENSP00000295550.4:p.Asn3148= | |
| ENST00000347401.7:c.7620C>T | ENSP00000315609.4:p.Asn2540= | |
| ENST00000353578.8:c.8826C>T | ENSP00000315873.4:p.Asn2942= | |
| ENST00000409809.5:c.8826C>T | ENSP00000386844.1:p.Asn2942= | |
| ENST00000472056.5:c.7623C>T | ENSP00000418285.1:p.Asn2541= | |
| ENST00000473258.1:n.4572C>T | ||
| ENST00000491769.1:n.5886C>T | ||
| NM_004369.3:c.9444C>T , LRG_473t1:c.9444C>T | NP_004360.2:p.Asn3148= | |
| NM_057166.4:c.7623C>T | NP_476507.3:p.Asn2541= | |
| NM_057167.3:c.8826C>T | NP_476508.2:p.Asn2942= | |
| XM_005246065.1:c.8844C>T | XP_005246122.1:p.Asn2948= | |
| XM_005246066.1:c.8223C>T | XP_005246123.1:p.Asn2741= | |
| XM_006712253.1:c.8943C>T | XP_006712316.1:p.Asn2981= | |
| XM_011510574.1:c.9441C>T | XP_011508876.1:p.Asn3147= | |
| XM_011510575.1:c.7038C>T | XP_011508877.1:p.Asn2346= | |
| XM_017003304.1:c.7038C>T | XP_016858793.1:p.Asn2346= | |
| XM_024452684.1:c.8223C>T | XP_024308452.1:p.Asn2741= | |
| NM_004369.4:c.9444C>T MANE Select | NP_004360.2:p.Asn3148= | |
| NM_057166.5:c.7623C>T | NP_476507.3:p.Asn2541= | |
| NM_057167.4:c.8826C>T | NP_476508.2:p.Asn2942= |