Linked Data
ClinVar Variation Id:
287133
dbSNP Id:
rs886043576
gnomAD v3:
2-237348653-C-G
gnomAD v4:
2-237348653-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237348653C>G , CM000664.2:g.237348653C>G | GRCh38 |
| NC_000002.11:g.238257296C>G , CM000664.1:g.238257296C>G | GRCh37 |
| NC_000002.10:g.237922035C>G | NCBI36 |
| NG_008676.1:g.70555G>C , LRG_473:g.70555G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6272G>C | ENSP00000315873.4:p.Gly2091Ala | |
| ENST00000295550.9:c.6890G>C MANE Select | ENSP00000295550.4:p.Gly2297Ala | |
| ENST00000295550.8:c.6890G>C | ENSP00000295550.4:p.Gly2297Ala | |
| ENST00000347401.7:c.5069G>C | ENSP00000315609.4:p.Gly1690Ala | |
| ENST00000353578.8:c.6272G>C | ENSP00000315873.4:p.Gly2091Ala | |
| ENST00000409809.5:c.6272G>C | ENSP00000386844.1:p.Gly2091Ala | |
| ENST00000472056.5:c.5069G>C | ENSP00000418285.1:p.Gly1690Ala | |
| ENST00000491769.1:n.1144G>C | ||
| NM_004369.3:c.6890G>C , LRG_473t1:c.6890G>C | NP_004360.2:p.Gly2297Ala | |
| NM_057166.4:c.5069G>C | NP_476507.3:p.Gly1690Ala | |
| NM_057167.3:c.6272G>C | NP_476508.2:p.Gly2091Ala | |
| XM_005246065.1:c.6290G>C | XP_005246122.1:p.Gly2097Ala | |
| XM_005246066.1:c.5669G>C | XP_005246123.1:p.Gly1890Ala | |
| XM_006712253.1:c.6389G>C | XP_006712316.1:p.Gly2130Ala | |
| XM_011510574.1:c.6887G>C | XP_011508876.1:p.Gly2296Ala | |
| XM_011510575.1:c.4484G>C | XP_011508877.1:p.Gly1495Ala | |
| XM_017003304.1:c.4484G>C | XP_016858793.1:p.Gly1495Ala | |
| XM_024452684.1:c.5669G>C | XP_024308452.1:p.Gly1890Ala | |
| NM_004369.4:c.6890G>C MANE Select | NP_004360.2:p.Gly2297Ala | |
| NM_057166.5:c.5069G>C | NP_476507.3:p.Gly1690Ala | |
| NM_057167.4:c.6272G>C | NP_476508.2:p.Gly2091Ala |