Linked Data
dbSNP Id:
rs1479495380
gnomAD v3:
1-173909592-G-A
gnomAD v4:
1-173909592-G-A
MyVariant Identifiers:
chr1:g.173878730G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909592G>A , CM000663.2:g.173909592G>A | GRCh38 |
| NC_000001.10:g.173878730G>A , CM000663.1:g.173878730G>A | GRCh37 |
| NC_000001.9:g.172145353G>A | NCBI36 |
| NG_012462.1:g.12787C>T , LRG_577:g.12787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1113C>T MANE Select | ENSP00000356671.3:p.Gly371= | |
| ENST00000367698.3:c.1113C>T | ENSP00000356671.3:p.Gly371= | |
| ENST00000617423.4:c.560-2099C>T | ENSP00000478688.1:n.560-2099C>T | |
| NM_000488.3:c.1113C>T , LRG_577t1:c.1113C>T | NP_000479.1:p.Gly371= | |
| XM_005245198.2:c.969C>T | XP_005245255.1:p.Gly323= | |
| NM_001365052.1:c.969C>T | NP_001351981.1:p.Gly323= | |
| NM_000488.4:c.1113C>T MANE Select | NP_000479.1:p.Gly371= | |
| NM_001365052.2:c.969C>T | NP_001351981.1:p.Gly323= | |
| NM_001386302.1:c.1236C>T | NP_001373231.1:p.Gly412= | |
| NM_001386303.1:c.1194C>T | NP_001373232.1:p.Gly398= | |
| NM_001386304.1:c.1092C>T | NP_001373233.1:p.Gly364= | |
| NM_001386305.1:c.1056C>T | NP_001373234.1:p.Gly352= | |
| NM_001386306.1:c.897C>T | NP_001373235.1:p.Gly299= |