Linked Data
dbSNP Id:
rs775413132
ExAC:
1:173878723 C / T
gnomAD v2:
1-173878723-C-T
gnomAD v3:
1-173909585-C-T
gnomAD v4:
1-173909585-C-T
COSMIC:
COSM208077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909585C>T , CM000663.2:g.173909585C>T | GRCh38 |
| NC_000001.10:g.173878723C>T , CM000663.1:g.173878723C>T | GRCh37 |
| NC_000001.9:g.172145346C>T | NCBI36 |
| NG_012462.1:g.12794G>A , LRG_577:g.12794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1120G>A MANE Select | ENSP00000356671.3:p.Asp374Asn | |
| ENST00000367698.3:c.1120G>A | ENSP00000356671.3:p.Asp374Asn | |
| ENST00000617423.4:c.560-2092G>A | ENSP00000478688.1:n.560-2092G>A | |
| NM_000488.3:c.1120G>A , LRG_577t1:c.1120G>A | NP_000479.1:p.Asp374Asn | |
| XM_005245198.2:c.976G>A | XP_005245255.1:p.Asp326Asn | |
| NM_001365052.1:c.976G>A | NP_001351981.1:p.Asp326Asn | |
| NM_000488.4:c.1120G>A MANE Select | NP_000479.1:p.Asp374Asn | |
| NM_001365052.2:c.976G>A | NP_001351981.1:p.Asp326Asn | |
| NM_001386302.1:c.1243G>A | NP_001373231.1:p.Asp415Asn | |
| NM_001386303.1:c.1201G>A | NP_001373232.1:p.Asp401Asn | |
| NM_001386304.1:c.1099G>A | NP_001373233.1:p.Asp367Asn | |
| NM_001386305.1:c.1063G>A | NP_001373234.1:p.Asp355Asn | |
| NM_001386306.1:c.904G>A | NP_001373235.1:p.Asp302Asn |