Linked Data
ClinVar Variation Id:
521319
ClinVar RCV Id:
RCV000622294
dbSNP Id:
rs776082092
ExAC:
1:98015225 C / T
gnomAD v2:
1-98015225-C-T
gnomAD v3:
1-97549669-C-T
gnomAD v4:
1-97549669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549669C>T , CM000663.2:g.97549669C>T | GRCh38 |
| NC_000001.10:g.98015225C>T , CM000663.1:g.98015225C>T | GRCh37 |
| NC_000001.9:g.97787813C>T | NCBI36 |
| NG_008807.2:g.376391G>A , LRG_722:g.376391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1415G>A MANE Select | ENSP00000359211.3:p.Ser472Asn | |
| ENST00000370192.7:c.1415G>A | ENSP00000359211.3:p.Ser472Asn | |
| NM_000110.3:c.1415G>A , LRG_722t1:c.1415G>A | NP_000101.2:p.Ser472Asn | |
| XM_005270562.3:c.1415G>A | XP_005270619.2:p.Ser472Asn | |
| XM_006710397.2:c.1415G>A | XP_006710460.1:p.Ser472Asn | |
| XM_006710397.3:c.1415G>A | XP_006710460.1:p.Ser472Asn | |
| XM_017000507.1:c.1304G>A | XP_016855996.1:p.Ser435Asn | |
| XM_017000508.2:c.920G>A | XP_016855997.1:p.Ser307Asn | |
| XM_017000509.2:c.920G>A | XP_016855998.1:p.Ser307Asn | |
| XM_017000510.1:c.920G>A | XP_016855999.1:p.Ser307Asn | |
| NM_000110.4:c.1415G>A MANE Select | NP_000101.2:p.Ser472Asn |