Linked Data
ClinVar Variation Id:
2157486
ClinVar RCV Id:
RCV003078124
dbSNP Id:
rs184508490
ExAC:
1:173878961 G / A
gnomAD v2:
1-173878961-G-A
gnomAD v3:
1-173909823-G-A
gnomAD v4:
1-173909823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909823G>A , CM000663.2:g.173909823G>A | GRCh38 |
| NC_000001.10:g.173878961G>A , CM000663.1:g.173878961G>A | GRCh37 |
| NC_000001.9:g.172145584G>A | NCBI36 |
| NG_012462.1:g.12556C>T , LRG_577:g.12556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.882C>T MANE Select | ENSP00000356671.3:p.Arg294= | |
| ENST00000367698.3:c.882C>T | ENSP00000356671.3:p.Arg294= | |
| ENST00000487183.1:n.533C>T | ||
| ENST00000617423.4:c.559+2041C>T | ENSP00000478688.1:n.559+2041C>T | |
| NM_000488.3:c.882C>T , LRG_577t1:c.882C>T | NP_000479.1:p.Arg294= | |
| XM_005245198.2:c.738C>T | XP_005245255.1:p.Arg246= | |
| NM_001365052.1:c.738C>T | NP_001351981.1:p.Arg246= | |
| NM_000488.4:c.882C>T MANE Select | NP_000479.1:p.Arg294= | |
| NM_001365052.2:c.738C>T | NP_001351981.1:p.Arg246= | |
| NM_001386302.1:c.1005C>T | NP_001373231.1:p.Arg335= | |
| NM_001386303.1:c.963C>T | NP_001373232.1:p.Arg321= | |
| NM_001386304.1:c.861C>T | NP_001373233.1:p.Arg287= | |
| NM_001386305.1:c.825C>T | NP_001373234.1:p.Arg275= | |
| NM_001386306.1:c.666C>T | NP_001373235.1:p.Arg222= |