Linked Data
dbSNP Id:
rs756940594
ExAC:
1:173883937 A / C
gnomAD v2:
1-173883937-A-C
gnomAD v4:
1-173914799-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914799A>C , CM000663.2:g.173914799A>C | GRCh38 |
| NC_000001.10:g.173883937A>C , CM000663.1:g.173883937A>C | GRCh37 |
| NC_000001.9:g.172150560A>C | NCBI36 |
| NG_012462.1:g.7580T>G , LRG_577:g.7580T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.162T>G MANE Select | ENSP00000356671.3:p.Ile54Met | |
| ENST00000367698.3:c.162T>G | ENSP00000356671.3:p.Ile54Met | |
| ENST00000494024.1:n.388T>G | ||
| ENST00000617423.4:c.162T>G | ENSP00000478688.1:p.Ile54Met | |
| NM_000488.3:c.162T>G , LRG_577t1:c.162T>G | NP_000479.1:p.Ile54Met | |
| XM_005245198.2:c.18T>G | XP_005245255.1:p.Ile6Met | |
| NM_001365052.1:c.18T>G | NP_001351981.1:p.Ile6Met | |
| NM_000488.4:c.162T>G MANE Select | NP_000479.1:p.Ile54Met | |
| NM_001365052.2:c.18T>G | NP_001351981.1:p.Ile6Met | |
| NM_001386302.1:c.162T>G | NP_001373231.1:p.Ile54Met | |
| NM_001386303.1:c.243T>G | NP_001373232.1:p.Ile81Met | |
| NM_001386304.1:c.162T>G | NP_001373233.1:p.Ile54Met | |
| NM_001386305.1:c.162T>G | NP_001373234.1:p.Ile54Met | |
| NM_001386306.1:c.162T>G | NP_001373235.1:p.Ile54Met |