Linked Data
ClinVar Variation Id:
215664
dbSNP Id:
rs863224337
gnomAD v2:
7-150655334-G-A
gnomAD v4:
7-150958246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958246G>A , CM000669.2:g.150958246G>A | GRCh38 |
| NC_000007.13:g.150655334G>A , CM000669.1:g.150655334G>A | GRCh37 |
| NC_000007.12:g.150286267G>A | NCBI36 |
| NG_008916.1:g.24681C>T , LRG_288:g.24681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1562C>T | ||
| ENST00000262186.10:c.729C>T MANE Select | ENSP00000262186.5:p.Ser243= | |
| ENST00000262186.9:c.729C>T | ENSP00000262186.5:p.Ser243= | |
| ENST00000430723.4:c.381C>T | ENSP00000387657.4:p.Ser127= | |
| ENST00000532957.5:n.952C>T | ||
| NM_000238.3:c.729C>T , LRG_288t1:c.729C>T | NP_000229.1:p.Ser243= | |
| NM_172056.2:c.729C>T , LRG_288t2:c.729C>T | NP_742053.1:p.Ser243= | |
| XM_011516185.1:c.429C>T | XP_011514487.1:p.Ser143= | |
| XM_011516186.1:c.729C>T | XP_011514488.1:p.Ser243= | |
| XM_011516185.2:c.429C>T | XP_011514487.1:p.Ser143= | |
| XM_011516186.3:c.729C>T | XP_011514488.1:p.Ser243= | |
| XM_017012195.1:c.579C>T | XP_016867684.1:p.Ser193= | |
| XM_017012196.1:c.552C>T | XP_016867685.1:p.Ser184= | |
| NM_000238.4:c.729C>T MANE Select | NP_000229.1:p.Ser243= |