Linked Data
ClinVar Variation Id:
3144368
ClinVar RCV Id:
RCV004439241
dbSNP Id:
rs1174728337
gnomAD v3:
1-203225705-T-C
gnomAD v4:
1-203225705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203225705T>C , CM000663.2:g.203225705T>C | GRCh38 |
| NC_000001.10:g.203194833T>C , CM000663.1:g.203194833T>C | GRCh37 |
| NC_000001.9:g.201461456T>C | NCBI36 |
| NG_012867.1:g.9028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.221A>G MANE Select | ENSP00000356198.1:p.Glu74Gly | |
| ENST00000255427.7:c.221A>G | ENSP00000255427.3:p.Glu74Gly | |
| ENST00000367229.5:c.221A>G | ENSP00000356198.1:p.Glu74Gly | |
| ENST00000484834.5:n.4578A>G | ||
| ENST00000491855.5:c.221A>G | ENSP00000423778.1:p.Glu74Gly | |
| ENST00000503786.1:c.221A>G | ENSP00000421617.1:p.Glu74Gly | |
| ENST00000513472.5:n.417A>G | ||
| NM_001256125.1:c.221A>G | NP_001243054.2:p.Glu74Gly | |
| NM_001270509.1:c.221A>G | NP_001257438.1:p.Glu74Gly | |
| NM_003465.2:c.221A>G | NP_003456.1:p.Glu74Gly | |
| NR_045784.1:n.317A>G | ||
| NR_045785.1:n.317A>G | ||
| XM_011509109.1:c.266A>G | XP_011507411.1:p.Glu89Gly | |
| XM_011509110.1:c.266A>G | XP_011507412.1:p.Glu89Gly | |
| XR_921732.1:n.266A>G | ||
| NM_003465.3:c.221A>G MANE Select | NP_003456.1:p.Glu74Gly | |
| NM_001256125.2:c.221A>G | NP_001243054.2:p.Glu74Gly | |
| NR_045784.2:n.258A>G | ||
| NR_045785.2:n.258A>G |