Linked Data
dbSNP Id:
rs1572088607
gnomAD v4:
1-173909784-T-C
MyVariant Identifiers:
chr1:g.173878922T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909784T>C , CM000663.2:g.173909784T>C | GRCh38 |
| NC_000001.10:g.173878922T>C , CM000663.1:g.173878922T>C | GRCh37 |
| NC_000001.9:g.172145545T>C | NCBI36 |
| NG_012462.1:g.12595A>G , LRG_577:g.12595A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.921A>G MANE Select | ENSP00000356671.3:p.Lys307= | |
| ENST00000367698.3:c.921A>G | ENSP00000356671.3:p.Lys307= | |
| ENST00000487183.1:n.572A>G | ||
| ENST00000617423.4:c.559+2080A>G | ENSP00000478688.1:n.559+2080A>G | |
| NM_000488.3:c.921A>G , LRG_577t1:c.921A>G | NP_000479.1:p.Lys307= | |
| XM_005245198.2:c.777A>G | XP_005245255.1:p.Lys259= | |
| NM_001365052.1:c.777A>G | NP_001351981.1:p.Lys259= | |
| NM_000488.4:c.921A>G MANE Select | NP_000479.1:p.Lys307= | |
| NM_001365052.2:c.777A>G | NP_001351981.1:p.Lys259= | |
| NM_001386302.1:c.1044A>G | NP_001373231.1:p.Lys348= | |
| NM_001386303.1:c.1002A>G | NP_001373232.1:p.Lys334= | |
| NM_001386304.1:c.900A>G | NP_001373233.1:p.Lys300= | |
| NM_001386305.1:c.864A>G | NP_001373234.1:p.Lys288= | |
| NM_001386306.1:c.705A>G | NP_001373235.1:p.Lys235= |