Linked Data
ClinVar Variation Id:
295440
dbSNP Id:
rs201127450
ExAC:
1:216465568 G / T
gnomAD v2:
1-216465568-G-T
gnomAD v3:
1-216292226-G-T
gnomAD v4:
1-216292226-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216292226G>T , CM000663.2:g.216292226G>T | GRCh38 |
| NC_000001.10:g.216465568G>T , CM000663.1:g.216465568G>T | GRCh37 |
| NC_000001.9:g.214532191G>T | NCBI36 |
| NG_009497.1:g.136171C>A | |
| NG_009497.2:g.136223C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1789C>A MANE Select | ENSP00000305941.3:p.His597Asn | |
| ENST00000674083.1:c.1789C>A | ENSP00000501296.1:p.His597Asn | |
| ENST00000307340.7:c.1789C>A | ENSP00000305941.3:p.His597Asn | |
| ENST00000366942.3:c.1789C>A | ENSP00000355909.3:p.His597Asn | |
| NM_007123.5:c.1789C>A | NP_009054.5:p.His597Asn | |
| NM_206933.2:c.1789C>A | NP_996816.2:p.His597Asn | |
| NM_206933.3:c.1789C>A | NP_996816.2:p.His597Asn | |
| NM_007123.6:c.1789C>A | NP_009054.6:p.His597Asn | |
| NM_206933.4:c.1789C>A MANE Select | NP_996816.3:p.His597Asn |