Linked Data
ClinVar Variation Id:
471329
ClinVar RCV Id:
RCV000552519
dbSNP Id:
rs61757683
ExAC:
1:19199448 G / T
gnomAD v2:
1-19199448-G-T
gnomAD v3:
1-18872954-G-T
gnomAD v4:
1-18872954-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18872954G>T , CM000663.2:g.18872954G>T | GRCh38 |
| NC_000001.10:g.19199448G>T , CM000663.1:g.19199448G>T | GRCh37 |
| NC_000001.9:g.19072035G>T | NCBI36 |
| NG_012283.1:g.34846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.1583C>A MANE Select | ENSP00000364490.3:p.Thr528Asn | |
| ENST00000290597.9:c.1583C>A | ENSP00000290597.5:p.Thr528Asn | |
| ENST00000375341.7:c.1583C>A | ENSP00000364490.3:p.Thr528Asn | |
| ENST00000494072.3:c.2631+1509C>A | ||
| ENST00000538309.5:c.1403C>A | ENSP00000442988.1:p.Thr468Asn | |
| ENST00000538839.5:c.1430C>A | ENSP00000446071.1:p.Thr477Asn | |
| NM_001161504.1:c.1403C>A | NP_001154976.1:p.Thr468Asn | |
| NM_003748.3:c.1583C>A | NP_003739.2:p.Thr528Asn | |
| NM_170726.2:c.1583C>A | NP_733844.1:p.Thr528Asn | |
| XM_011542352.1:c.1430C>A | XP_011540654.1:p.Thr477Asn | |
| XR_946786.1:n.1452C>A | ||
| NM_001319218.1:c.1430C>A | NP_001306147.1:p.Thr477Asn | |
| XR_001737510.1:n.1299C>A | ||
| NM_003748.4:c.1583C>A MANE Select | NP_003739.2:p.Thr528Asn | |
| NM_170726.3:c.1583C>A | NP_733844.1:p.Thr528Asn | |
| NM_001161504.2:c.1403C>A | NP_001154976.1:p.Thr468Asn | |
| NM_001319218.2:c.1430C>A | NP_001306147.1:p.Thr477Asn |