Linked Data
ClinVar Variation Id:
18042
ClinVar RCV Id:
RCV000019658
dbSNP Id:
rs121909571
gnomAD v2:
1-173879999-T-C
gnomAD v3:
1-173910861-T-C
gnomAD v4:
1-173910861-T-C
ERepo:
CA210798/MONDO:0013144/084
PubMed:
PMID:7989582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173910861T>C , CM000663.2:g.173910861T>C | GRCh38 |
| NC_000001.10:g.173879999T>C , CM000663.1:g.173879999T>C | GRCh37 |
| NC_000001.9:g.172146622T>C | NCBI36 |
| NG_012462.1:g.11518A>G , LRG_577:g.11518A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.655A>G MANE Select | ENSP00000356671.3:p.Asn219Asp | |
| ENST00000367698.3:c.655A>G | ENSP00000356671.3:p.Asn219Asp | |
| ENST00000487183.1:n.330-24A>G | ||
| ENST00000617423.4:c.559+1003A>G | ENSP00000478688.1:n.559+1003A>G | |
| NM_000488.3:c.655A>G , LRG_577t1:c.655A>G | NP_000479.1:p.Asn219Asp | |
| XM_005245198.2:c.511A>G | XP_005245255.1:p.Asn171Asp | |
| NM_001365052.1:c.511A>G | NP_001351981.1:p.Asn171Asp | |
| NM_000488.4:c.655A>G MANE Select | NP_000479.1:p.Asn219Asp | |
| NM_001365052.2:c.511A>G | NP_001351981.1:p.Asn171Asp | |
| NM_001386302.1:c.655A>G | NP_001373231.1:p.Asn219Asp | |
| NM_001386303.1:c.736A>G | NP_001373232.1:p.Asn246Asp | |
| NM_001386304.1:c.655A>G | NP_001373233.1:p.Asn219Asp | |
| NM_001386305.1:c.655A>G | NP_001373234.1:p.Asn219Asp | |
| NM_001386306.1:c.439A>G | NP_001373235.1:p.Asn147Asp |