Linked Data
ClinVar Variation Id:
287900
dbSNP Id:
rs568632361
gnomAD v2:
2-238233443-C-T
gnomAD v3:
2-237324800-C-T
gnomAD v4:
2-237324800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237324800C>T , CM000664.2:g.237324800C>T | GRCh38 |
| NC_000002.11:g.238233443C>T , CM000664.1:g.238233443C>T | GRCh37 |
| NC_000002.10:g.237898182C>T | NCBI36 |
| NG_008676.1:g.94408G>A , LRG_473:g.94408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1889G>A | ||
| ENST00000353578.9:c.8890G>A | ENSP00000315873.4:p.Gly2964Arg | |
| ENST00000682957.1:c.1635G>A | ||
| ENST00000683348.1:c.374G>A | ENSP00000508058.1:n.374G>A | |
| ENST00000295550.9:c.9508G>A MANE Select | ENSP00000295550.4:p.Gly3170Arg | |
| ENST00000295550.8:c.9508G>A | ENSP00000295550.4:p.Gly3170Arg | |
| ENST00000347401.7:c.7684G>A | ENSP00000315609.4:p.Gly2562Arg | |
| ENST00000353578.8:c.8890G>A | ENSP00000315873.4:p.Gly2964Arg | |
| ENST00000409809.5:c.8890G>A | ENSP00000386844.1:p.Gly2964Arg | |
| ENST00000472056.5:c.7687G>A | ENSP00000418285.1:p.Gly2563Arg | |
| ENST00000473258.1:n.4636G>A | ||
| ENST00000491769.1:n.5950G>A | ||
| NM_004369.3:c.9508G>A , LRG_473t1:c.9508G>A | NP_004360.2:p.Gly3170Arg | |
| NM_057166.4:c.7687G>A | NP_476507.3:p.Gly2563Arg | |
| NM_057167.3:c.8890G>A | NP_476508.2:p.Gly2964Arg | |
| XM_005246065.1:c.8908G>A | XP_005246122.1:p.Gly2970Arg | |
| XM_005246066.1:c.8287G>A | XP_005246123.1:p.Gly2763Arg | |
| XM_006712253.1:c.9007G>A | XP_006712316.1:p.Gly3003Arg | |
| XM_011510574.1:c.9505G>A | XP_011508876.1:p.Gly3169Arg | |
| XM_011510575.1:c.7102G>A | XP_011508877.1:p.Gly2368Arg | |
| XM_017003304.1:c.7102G>A | XP_016858793.1:p.Gly2368Arg | |
| XM_024452684.1:c.8287G>A | XP_024308452.1:p.Gly2763Arg | |
| NM_004369.4:c.9508G>A MANE Select | NP_004360.2:p.Gly3170Arg | |
| NM_057166.5:c.7687G>A | NP_476507.3:p.Gly2563Arg | |
| NM_057167.4:c.8890G>A | NP_476508.2:p.Gly2964Arg |