Linked Data
dbSNP Id:
rs201245563
ExAC:
18:22057144 G / T
gnomAD v2:
18-22057144-G-T
gnomAD v3:
18-24477180-G-T
gnomAD v4:
18-24477180-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477180G>T , CM000680.2:g.24477180G>T | GRCh38 |
| NC_000018.9:g.22057144G>T , CM000680.1:g.22057144G>T | GRCh37 |
| NC_000018.8:g.20311142G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.791G>T MANE Select | ENSP00000256906.4:p.Arg264Ile | |
| ENST00000256906.4:c.791G>T | ENSP00000256906.4:p.Arg264Ile | |
| ENST00000426880.2:c.527G>T | ENSP00000402526.2:p.Arg176Ile | |
| NM_001143828.1:c.527G>T | NP_001137300.1:p.Arg176Ile | |
| NM_001160166.1:c.*423G>T | NP_001153638.1:n.*423G>T | |
| NM_021624.3:c.791G>T | NP_067637.2:p.Arg264Ile | |
| XM_011526133.1:c.357+8229G>T | XP_011524435.1:n.357+8229G>T | |
| NM_021624.4:c.791G>T MANE Select | NP_067637.2:p.Arg264Ile | |
| NM_001143828.2:c.527G>T | NP_001137300.1:p.Arg176Ile | |
| NM_001160166.2:c.*423G>T | NP_001153638.1:n.*423G>T |