Linked Data
ClinVar Variation Id:
238201
dbSNP Id:
rs760885169
ExAC:
1:24020397 T / G
gnomAD v2:
1-24020397-T-G
gnomAD v3:
1-23693907-T-G
gnomAD v4:
1-23693907-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23693907T>G , CM000663.2:g.23693907T>G | GRCh38 |
| NC_000001.10:g.24020397T>G , CM000663.1:g.24020397T>G | GRCh37 |
| NC_000001.9:g.23892984T>G | NCBI36 |
| NG_011741.1:g.7104T>G | |
| NG_011741.2:g.7129T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.255T>G | ENSP00000363676.4:p.Gly85= | |
| ENST00000443624.6:n.276T>G | ||
| ENST00000458455.2:c.225T>G | ENSP00000398888.2:p.Gly75= | |
| ENST00000467075.2:c.*354T>G | ENSP00000493634.1:n.*354T>G | |
| ENST00000482370.2:n.252T>G | ||
| ENST00000643754.2:c.258T>G MANE Select | ENSP00000496250.1:p.Gly86= | |
| ENST00000374550.7:c.258T>G | ENSP00000363676.3:p.Gly86= | |
| ENST00000443624.5:c.252T>G | ENSP00000390839.1:p.Gly84= | |
| ENST00000458455.1:c.252T>G | ENSP00000398888.1:p.Gly84= | |
| ENST00000482370.1:n.555T>G | ||
| NM_000975.3:c.258T>G | NP_000966.2:p.Gly86= | |
| NM_001199802.1:c.255T>G | NP_001186731.1:p.Gly85= | |
| NM_000975.5:c.258T>G MANE Select | NP_000966.2:p.Gly86= |