Linked Data
ClinVar Variation Id:
167196
dbSNP Id:
rs1141528
ExAC:
3:121507231 A / T
gnomAD v2:
3-121507231-A-T
gnomAD v3:
3-121788384-A-T
gnomAD v4:
3-121788384-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121788384A>T , CM000665.2:g.121788384A>T | GRCh38 |
| NC_000003.11:g.121507231A>T , CM000665.1:g.121507231A>T | GRCh37 |
| NC_000003.10:g.122989921A>T | NCBI36 |
| NG_015887.1:g.51696T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310864.11:c.1178T>A MANE Select | ENSP00000311505.6:p.Ile393Asn | |
| ENST00000310864.10:c.1178T>A | ENSP00000311505.6:p.Ile393Asn | |
| ENST00000349820.10:c.779T>A | ENSP00000323756.7:p.Ile260Asn | |
| ENST00000393650.7:c.*156T>A | ENSP00000377261.3:n.*156T>A | |
| NM_001023570.2:c.1178T>A | NP_001018864.2:p.Ile393Asn | |
| NM_001023571.2:c.779T>A | NP_001018865.2:p.Ile260Asn | |
| XM_005247911.2:c.1178T>A | XP_005247968.1:p.Ile393Asn | |
| XM_005247912.1:c.626T>A | XP_005247969.1:p.Ile209Asn | |
| XM_005247913.1:c.1129+1689T>A | XP_005247970.1:n.1129+1689T>A | |
| XM_011513335.1:c.626T>A | XP_011511637.1:p.Ile209Asn | |
| XR_924221.1:n.1195T>A | ||
| NM_001023570.3:c.1178T>A | NP_001018864.2:p.Ile393Asn | |
| NM_001023571.3:c.779T>A | NP_001018865.2:p.Ile260Asn | |
| NM_001319107.1:c.1178T>A | NP_001306036.1:p.Ile393Asn | |
| NR_134968.1:n.1282T>A | ||
| XM_005247911.4:c.1178T>A | XP_005247968.1:p.Ile393Asn | |
| XM_005247912.3:c.626T>A | XP_005247969.1:p.Ile209Asn | |
| XM_011513335.3:c.626T>A | XP_011511637.1:p.Ile209Asn | |
| XM_017007537.2:c.626T>A | XP_016863026.1:p.Ile209Asn | |
| XM_017007539.2:c.779T>A | XP_016863028.1:p.Ile260Asn | |
| XM_024453833.1:c.626T>A | XP_024309601.1:p.Ile209Asn | |
| XM_024453834.1:c.626T>A | XP_024309602.1:p.Ile209Asn | |
| XR_001740376.2:n.1257+1689T>A | ||
| XR_001740377.2:n.1257+1689T>A | ||
| XR_001740378.2:n.1196T>A | ||
| XR_001740379.2:n.1147+1689T>A | ||
| XR_001740380.2:n.1196T>A | ||
| XR_001740381.2:n.1147+1689T>A | ||
| NM_001023570.4:c.1178T>A MANE Select | NP_001018864.2:p.Ile393Asn | |
| NM_001023571.4:c.779T>A | NP_001018865.2:p.Ile260Asn | |
| NM_001319107.2:c.1178T>A | NP_001306036.1:p.Ile393Asn | |
| NR_134968.2:n.1263T>A |