Linked Data
dbSNP Id:
rs1657676493
gnomAD v4:
1-173909643-G-C
MyVariant Identifiers:
chr1:g.173878781G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909643G>C , CM000663.2:g.173909643G>C | GRCh38 |
| NC_000001.10:g.173878781G>C , CM000663.1:g.173878781G>C | GRCh37 |
| NC_000001.9:g.172145404G>C | NCBI36 |
| NG_012462.1:g.12736C>G , LRG_577:g.12736C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1062C>G MANE Select | ENSP00000356671.3:p.Arg354= | |
| ENST00000367698.3:c.1062C>G | ENSP00000356671.3:p.Arg354= | |
| ENST00000617423.4:c.560-2150C>G | ENSP00000478688.1:n.560-2150C>G | |
| NM_000488.3:c.1062C>G , LRG_577t1:c.1062C>G | NP_000479.1:p.Arg354= | |
| XM_005245198.2:c.918C>G | XP_005245255.1:p.Arg306= | |
| NM_001365052.1:c.918C>G | NP_001351981.1:p.Arg306= | |
| NM_000488.4:c.1062C>G MANE Select | NP_000479.1:p.Arg354= | |
| NM_001365052.2:c.918C>G | NP_001351981.1:p.Arg306= | |
| NM_001386302.1:c.1185C>G | NP_001373231.1:p.Arg395= | |
| NM_001386303.1:c.1143C>G | NP_001373232.1:p.Arg381= | |
| NM_001386304.1:c.1041C>G | NP_001373233.1:p.Arg347= | |
| NM_001386305.1:c.1005C>G | NP_001373234.1:p.Arg335= | |
| NM_001386306.1:c.846C>G | NP_001373235.1:p.Arg282= |