Linked Data
ClinVar Variation Id:
526974
dbSNP Id:
rs989191027
gnomAD v2:
7-150655381-C-G
gnomAD v3:
7-150958293-C-G
gnomAD v4:
7-150958293-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958293C>G , CM000669.2:g.150958293C>G | GRCh38 |
| NC_000007.13:g.150655381C>G , CM000669.1:g.150655381C>G | GRCh37 |
| NC_000007.12:g.150286314C>G | NCBI36 |
| NG_008916.1:g.24634G>C , LRG_288:g.24634G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1515G>C | ||
| ENST00000262186.10:c.682G>C MANE Select | ENSP00000262186.5:p.Ala228Pro | |
| ENST00000262186.9:c.682G>C | ENSP00000262186.5:p.Ala228Pro | |
| ENST00000430723.4:c.334G>C | ENSP00000387657.4:p.Ala112Pro | |
| ENST00000532957.5:n.905G>C | ||
| NM_000238.3:c.682G>C , LRG_288t1:c.682G>C | NP_000229.1:p.Ala228Pro | |
| NM_172056.2:c.682G>C , LRG_288t2:c.682G>C | NP_742053.1:p.Ala228Pro | |
| XM_011516185.1:c.382G>C | XP_011514487.1:p.Ala128Pro | |
| XM_011516186.1:c.682G>C | XP_011514488.1:p.Ala228Pro | |
| XM_011516185.2:c.382G>C | XP_011514487.1:p.Ala128Pro | |
| XM_011516186.3:c.682G>C | XP_011514488.1:p.Ala228Pro | |
| XM_017012195.1:c.532G>C | XP_016867684.1:p.Ala178Pro | |
| XM_017012196.1:c.505G>C | XP_016867685.1:p.Ala169Pro | |
| NM_000238.4:c.682G>C MANE Select | NP_000229.1:p.Ala228Pro |