Linked Data
dbSNP Id:
rs1572088591
gnomAD v4:
1-173909763-G-A
MyVariant Identifiers:
chr1:g.173878901G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909763G>A , CM000663.2:g.173909763G>A | GRCh38 |
| NC_000001.10:g.173878901G>A , CM000663.1:g.173878901G>A | GRCh37 |
| NC_000001.9:g.172145524G>A | NCBI36 |
| NG_012462.1:g.12616C>T , LRG_577:g.12616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.942C>T MANE Select | ENSP00000356671.3:p.Val314= | |
| ENST00000367698.3:c.942C>T | ENSP00000356671.3:p.Val314= | |
| ENST00000487183.1:n.593C>T | ||
| ENST00000617423.4:c.559+2101C>T | ENSP00000478688.1:n.559+2101C>T | |
| NM_000488.3:c.942C>T , LRG_577t1:c.942C>T | NP_000479.1:p.Val314= | |
| XM_005245198.2:c.798C>T | XP_005245255.1:p.Val266= | |
| NM_001365052.1:c.798C>T | NP_001351981.1:p.Val266= | |
| NM_000488.4:c.942C>T MANE Select | NP_000479.1:p.Val314= | |
| NM_001365052.2:c.798C>T | NP_001351981.1:p.Val266= | |
| NM_001386302.1:c.1065C>T | NP_001373231.1:p.Val355= | |
| NM_001386303.1:c.1023C>T | NP_001373232.1:p.Val341= | |
| NM_001386304.1:c.921C>T | NP_001373233.1:p.Val307= | |
| NM_001386305.1:c.885C>T | NP_001373234.1:p.Val295= | |
| NM_001386306.1:c.726C>T | NP_001373235.1:p.Val242= |