MyVariant.info:
GRCh37
chr1:g.173878886C>T
gnomAD v4:
Joint Max Group AF
0.00049989 (EAS)
Exomes Max Group AF
0.00056521 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909748C>T , CM000663.2:g.173909748C>T | GRCh38 |
| NC_000001.10:g.173878886C>T , CM000663.1:g.173878886C>T | GRCh37 |
| NC_000001.9:g.172145509C>T | NCBI36 |
| NG_012462.1:g.12631G>A , LRG_577:g.12631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.957G>A MANE Select | ENSP00000356671.3:p.Lys319= | |
| ENST00000367698.3:c.957G>A | ENSP00000356671.3:p.Lys319= | |
| ENST00000487183.1:n.608G>A | ||
| ENST00000617423.4:c.559+2116G>A | ENSP00000478688.1:n.559+2116G>A | |
| NM_000488.3:c.957G>A , LRG_577t1:c.957G>A | NP_000479.1:p.Lys319= | |
| XM_005245198.2:c.813G>A | XP_005245255.1:p.Lys271= | |
| NM_001365052.1:c.813G>A | NP_001351981.1:p.Lys271= | |
| NM_000488.4:c.957G>A MANE Select | NP_000479.1:p.Lys319= | |
| NM_001365052.2:c.813G>A | NP_001351981.1:p.Lys271= | |
| NM_001386302.1:c.1080G>A | NP_001373231.1:p.Lys360= | |
| NM_001386303.1:c.1038G>A | NP_001373232.1:p.Lys346= | |
| NM_001386304.1:c.936G>A | NP_001373233.1:p.Lys312= | |
| NM_001386305.1:c.900G>A | NP_001373234.1:p.Lys300= | |
| NM_001386306.1:c.741G>A | NP_001373235.1:p.Lys247= |