Linked Data
ClinVar Variation Id:
67548
ClinVar RCV Id:
RCV000058277
dbSNP Id:
rs199473504
ExAC:
7:150654567 C / T
gnomAD v2:
7-150654567-C-T
gnomAD v3:
7-150957479-C-T
gnomAD v4:
7-150957479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957479C>T , CM000669.2:g.150957479C>T | GRCh38 |
| NC_000007.13:g.150654567C>T , CM000669.1:g.150654567C>T | GRCh37 |
| NC_000007.12:g.150285500C>T | NCBI36 |
| NG_008916.1:g.25448G>A , LRG_288:g.25448G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1773G>A | ||
| ENST00000262186.10:c.940G>A MANE Select | ENSP00000262186.5:p.Gly314Ser | |
| ENST00000262186.9:c.940G>A | ENSP00000262186.5:p.Gly314Ser | |
| ENST00000430723.4:c.592G>A | ENSP00000387657.4:p.Gly198Ser | |
| ENST00000532957.5:n.1163G>A | ||
| NM_000238.3:c.940G>A , LRG_288t1:c.940G>A | NP_000229.1:p.Gly314Ser | |
| NM_172056.2:c.940G>A , LRG_288t2:c.940G>A | NP_742053.1:p.Gly314Ser | |
| XM_011516185.1:c.640G>A | XP_011514487.1:p.Gly214Ser | |
| XM_011516186.1:c.940G>A | XP_011514488.1:p.Gly314Ser | |
| XM_011516185.2:c.640G>A | XP_011514487.1:p.Gly214Ser | |
| XM_011516186.3:c.940G>A | XP_011514488.1:p.Gly314Ser | |
| XM_017012195.1:c.790G>A | XP_016867684.1:p.Gly264Ser | |
| XM_017012196.1:c.763G>A | XP_016867685.1:p.Gly255Ser | |
| NM_000238.4:c.940G>A MANE Select | NP_000229.1:p.Gly314Ser |