Linked Data
ClinVar Variation Id:
67540
dbSNP Id:
rs199472882
gnomAD v2:
7-150655174-G-A
gnomAD v3:
7-150958086-G-A
gnomAD v4:
7-150958086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958086G>A , CM000669.2:g.150958086G>A | GRCh38 |
| NC_000007.13:g.150655174G>A , CM000669.1:g.150655174G>A | GRCh37 |
| NC_000007.12:g.150286107G>A | NCBI36 |
| NG_008916.1:g.24841C>T , LRG_288:g.24841C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1722C>T | ||
| ENST00000262186.10:c.889C>T MANE Select | ENSP00000262186.5:p.Pro297Ser | |
| ENST00000262186.9:c.889C>T | ENSP00000262186.5:p.Pro297Ser | |
| ENST00000430723.4:c.541C>T | ENSP00000387657.4:p.Pro181Ser | |
| ENST00000532957.5:n.1112C>T | ||
| NM_000238.3:c.889C>T , LRG_288t1:c.889C>T | NP_000229.1:p.Pro297Ser | |
| NM_172056.2:c.889C>T , LRG_288t2:c.889C>T | NP_742053.1:p.Pro297Ser | |
| XM_011516185.1:c.589C>T | XP_011514487.1:p.Pro197Ser | |
| XM_011516186.1:c.889C>T | XP_011514488.1:p.Pro297Ser | |
| XM_011516185.2:c.589C>T | XP_011514487.1:p.Pro197Ser | |
| XM_011516186.3:c.889C>T | XP_011514488.1:p.Pro297Ser | |
| XM_017012195.1:c.739C>T | XP_016867684.1:p.Pro247Ser | |
| XM_017012196.1:c.712C>T | XP_016867685.1:p.Pro238Ser | |
| NM_000238.4:c.889C>T MANE Select | NP_000229.1:p.Pro297Ser |