Linked Data
ClinVar Variation Id:
2173708
ClinVar RCV Id:
RCV002584686
dbSNP Id:
rs1657379892
gnomAD v3:
1-173904049-C-T
gnomAD v4:
1-173904049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904049C>T , CM000663.2:g.173904049C>T | GRCh38 |
| NC_000001.10:g.173873187C>T , CM000663.1:g.173873187C>T | GRCh37 |
| NC_000001.9:g.172139810C>T | NCBI36 |
| NG_012462.1:g.18330G>A , LRG_577:g.18330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1235G>A MANE Select | ENSP00000356671.3:p.Ser412Asn | |
| ENST00000367698.3:c.1235G>A | ENSP00000356671.3:p.Ser412Asn | |
| ENST00000617423.4:c.620G>A | ENSP00000478688.1:p.Ser207Asn | |
| NM_000488.3:c.1235G>A , LRG_577t1:c.1235G>A | NP_000479.1:p.Ser412Asn | |
| XM_005245198.2:c.1091G>A | XP_005245255.1:p.Ser364Asn | |
| NM_001365052.1:c.1091G>A | NP_001351981.1:p.Ser364Asn | |
| NM_000488.4:c.1235G>A MANE Select | NP_000479.1:p.Ser412Asn | |
| NM_001365052.2:c.1091G>A | NP_001351981.1:p.Ser364Asn | |
| NM_001386302.1:c.1358G>A | NP_001373231.1:p.Ser453Asn | |
| NM_001386303.1:c.1316G>A | NP_001373232.1:p.Ser439Asn | |
| NM_001386304.1:c.1214G>A | NP_001373233.1:p.Ser405Asn | |
| NM_001386305.1:c.1178G>A | NP_001373234.1:p.Ser393Asn | |
| NM_001386306.1:c.1019G>A | NP_001373235.1:p.Ser340Asn |