Linked Data
dbSNP Id:
rs1572088782
gnomAD v3:
1-173909877-T-C
gnomAD v4:
1-173909877-T-C
MyVariant Identifiers:
chr1:g.173879015T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909877T>C , CM000663.2:g.173909877T>C | GRCh38 |
| NC_000001.10:g.173879015T>C , CM000663.1:g.173879015T>C | GRCh37 |
| NC_000001.9:g.172145638T>C | NCBI36 |
| NG_012462.1:g.12502A>G , LRG_577:g.12502A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.828A>G MANE Select | ENSP00000356671.3:p.Gly276= | |
| ENST00000367698.3:c.828A>G | ENSP00000356671.3:p.Gly276= | |
| ENST00000487183.1:n.479A>G | ||
| ENST00000617423.4:c.559+1987A>G | ENSP00000478688.1:n.559+1987A>G | |
| NM_000488.3:c.828A>G , LRG_577t1:c.828A>G | NP_000479.1:p.Gly276= | |
| XM_005245198.2:c.684A>G | XP_005245255.1:p.Gly228= | |
| NM_001365052.1:c.684A>G | NP_001351981.1:p.Gly228= | |
| NM_000488.4:c.828A>G MANE Select | NP_000479.1:p.Gly276= | |
| NM_001365052.2:c.684A>G | NP_001351981.1:p.Gly228= | |
| NM_001386302.1:c.951A>G | NP_001373231.1:p.Gly317= | |
| NM_001386303.1:c.909A>G | NP_001373232.1:p.Gly303= | |
| NM_001386304.1:c.807A>G | NP_001373233.1:p.Gly269= | |
| NM_001386305.1:c.771A>G | NP_001373234.1:p.Gly257= | |
| NM_001386306.1:c.612A>G | NP_001373235.1:p.Gly204= |