Linked Data
ClinVar Variation Id:
235543
dbSNP Id:
rs79040751
ExAC:
5:38493836 G / T
gnomAD v2:
5-38493836-G-T
gnomAD v3:
5-38493734-G-T
gnomAD v4:
5-38493734-G-T
PubMed:
PMID:28334964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38493734G>T , CM000667.2:g.38493734G>T | GRCh38 |
| NC_000005.9:g.38493836G>T , CM000667.1:g.38493836G>T | GRCh37 |
| NC_000005.8:g.38529593G>T | NCBI36 |
| NG_011817.1:g.106672C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453190.7:c.1937C>A MANE Select | ENSP00000398368.2:p.Thr646Asn | |
| ENST00000263409.8:c.1937C>A | ENSP00000263409.4:p.Thr646Asn | |
| ENST00000453190.6:c.1937C>A | ENSP00000398368.2:p.Thr646Asn | |
| ENST00000503088.1:n.2100C>A | ||
| ENST00000506003.5:c.315C>A | ||
| NM_001127671.1:c.1937C>A | NP_001121143.1:p.Thr646Asn | |
| NM_002310.5:c.1937C>A | NP_002301.1:p.Thr646Asn | |
| XM_011514040.1:c.1937C>A | XP_011512342.1:p.Thr646Asn | |
| XM_011514041.1:c.1937C>A | XP_011512343.1:p.Thr646Asn | |
| XM_011514042.1:c.1937C>A | XP_011512344.1:p.Thr646Asn | |
| NM_001364297.1:c.1937C>A | NP_001351226.1:p.Thr646Asn | |
| NM_001364298.1:c.1937C>A | NP_001351227.1:p.Thr646Asn | |
| XM_011514042.3:c.1937C>A | XP_011512344.1:p.Thr646Asn | |
| XM_017009462.1:c.1991C>A | XP_016864951.1:p.Thr664Asn | |
| XM_017009463.1:c.1937C>A | XP_016864952.1:p.Thr646Asn | |
| NM_001127671.2:c.1937C>A MANE Select | NP_001121143.1:p.Thr646Asn | |
| NM_002310.6:c.1937C>A | NP_002301.1:p.Thr646Asn | |
| NM_001364297.2:c.1937C>A | NP_001351226.1:p.Thr646Asn | |
| NM_001364298.2:c.1937C>A | NP_001351227.1:p.Thr646Asn |