Linked Data
dbSNP Id:
rs763500270
ExAC:
18:22056836 T / C
gnomAD v2:
18-22056836-T-C
gnomAD v4:
18-24476872-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476872T>C , CM000680.2:g.24476872T>C | GRCh38 |
| NC_000018.9:g.22056836T>C , CM000680.1:g.22056836T>C | GRCh37 |
| NC_000018.8:g.20310834T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.483T>C MANE Select | ENSP00000256906.4:p.Gly161= | |
| ENST00000256906.4:c.483T>C | ENSP00000256906.4:p.Gly161= | |
| ENST00000426880.2:c.219T>C | ENSP00000402526.2:p.Gly73= | |
| NM_001143828.1:c.219T>C | NP_001137300.1:p.Gly73= | |
| NM_001160166.1:c.*115T>C | NP_001153638.1:n.*115T>C | |
| NM_021624.3:c.483T>C | NP_067637.2:p.Gly161= | |
| XM_011526133.1:c.357+7921T>C | XP_011524435.1:n.357+7921T>C | |
| NM_021624.4:c.483T>C MANE Select | NP_067637.2:p.Gly161= | |
| NM_001143828.2:c.219T>C | NP_001137300.1:p.Gly73= | |
| NM_001160166.2:c.*115T>C | NP_001153638.1:n.*115T>C |