Linked Data
ClinVar Variation Id:
3017679
ClinVar RCV Id:
RCV003874278
dbSNP Id:
rs755304105
ExAC:
7:150649742 G / T
gnomAD v2:
7-150649742-G-T
gnomAD v3:
7-150952654-G-T
gnomAD v4:
7-150952654-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952654G>T , CM000669.2:g.150952654G>T | GRCh38 |
| NC_000007.13:g.150649742G>T , CM000669.1:g.150649742G>T | GRCh37 |
| NC_000007.12:g.150280675G>T | NCBI36 |
| NG_008916.1:g.30273C>A , LRG_288:g.30273C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.626C>A | ||
| ENST00000684116.1:n.221C>A | ||
| ENST00000684241.1:n.2161C>A | ||
| ENST00000262186.10:c.1328C>A MANE Select | ENSP00000262186.5:p.Thr443Asn | |
| ENST00000330883.9:c.308C>A | ENSP00000328531.4:p.Thr103Asn | |
| ENST00000262186.9:c.1328C>A | ENSP00000262186.5:p.Thr443Asn | |
| ENST00000330883.8:c.308C>A | ENSP00000328531.4:p.Thr103Asn | |
| ENST00000430723.4:c.980C>A | ENSP00000387657.4:p.Thr327Asn | |
| ENST00000461280.1:n.615C>A | ||
| ENST00000473610.5:n.633C>A | ||
| ENST00000532957.5:n.1551C>A | ||
| NM_000238.3:c.1328C>A , LRG_288t1:c.1328C>A | NP_000229.1:p.Thr443Asn | |
| NM_001204798.1:c.308C>A | NP_001191727.1:p.Thr103Asn | |
| NM_172056.2:c.1328C>A , LRG_288t2:c.1328C>A | NP_742053.1:p.Thr443Asn | |
| NM_172057.2:c.308C>A , LRG_288t3:c.308C>A | NP_742054.1:p.Thr103Asn | |
| XM_011516185.1:c.1028C>A | XP_011514487.1:p.Thr343Asn | |
| XM_011516186.1:c.1328C>A | XP_011514488.1:p.Thr443Asn | |
| XM_011516185.2:c.1028C>A | XP_011514487.1:p.Thr343Asn | |
| XM_011516186.3:c.1328C>A | XP_011514488.1:p.Thr443Asn | |
| XM_017012195.1:c.1178C>A | XP_016867684.1:p.Thr393Asn | |
| XM_017012196.1:c.1151C>A | XP_016867685.1:p.Thr384Asn | |
| NM_000238.4:c.1328C>A MANE Select | NP_000229.1:p.Thr443Asn | |
| NM_001204798.2:c.308C>A | NP_001191727.1:p.Thr103Asn | |
| NM_172057.3:c.308C>A | NP_742054.1:p.Thr103Asn |