Linked Data
ClinVar Variation Id:
2848842
ClinVar RCV Id:
RCV003640215
dbSNP Id:
rs1263564864
gnomAD v3:
1-173903946-T-C
gnomAD v4:
1-173903946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903946T>C , CM000663.2:g.173903946T>C | GRCh38 |
| NC_000001.10:g.173873084T>C , CM000663.1:g.173873084T>C | GRCh37 |
| NC_000001.9:g.172139707T>C | NCBI36 |
| NG_012462.1:g.18433A>G , LRG_577:g.18433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1338A>G MANE Select | ENSP00000356671.3:p.Glu446= | |
| ENST00000367698.3:c.1338A>G | ENSP00000356671.3:p.Glu446= | |
| ENST00000617423.4:c.723A>G | ENSP00000478688.1:p.Glu241= | |
| NM_000488.3:c.1338A>G , LRG_577t1:c.1338A>G | NP_000479.1:p.Glu446= | |
| XM_005245198.2:c.1194A>G | XP_005245255.1:p.Glu398= | |
| NM_001365052.1:c.1194A>G | NP_001351981.1:p.Glu398= | |
| NM_000488.4:c.1338A>G MANE Select | NP_000479.1:p.Glu446= | |
| NM_001365052.2:c.1194A>G | NP_001351981.1:p.Glu398= | |
| NM_001386302.1:c.1461A>G | NP_001373231.1:p.Glu487= | |
| NM_001386303.1:c.1419A>G | NP_001373232.1:p.Glu473= | |
| NM_001386304.1:c.1317A>G | NP_001373233.1:p.Glu439= | |
| NM_001386305.1:c.1281A>G | NP_001373234.1:p.Glu427= | |
| NM_001386306.1:c.1122A>G | NP_001373235.1:p.Glu374= |