Linked Data
ClinVar Variation Id:
67419
ClinVar RCV Id:
RCV000058144
RCV000171755
RCV001083512
RCV001194444
RCV002498334
RCV001841711
RCV002453372
RCV004549485
dbSNP Id:
rs41314354
ExAC:
7:150645607 C / T
gnomAD v2:
7-150645607-C-T
gnomAD v3:
7-150948519-C-T
gnomAD v4:
7-150948519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948519C>T , CM000669.2:g.150948519C>T | GRCh38 |
| NC_000007.13:g.150645607C>T , CM000669.1:g.150645607C>T | GRCh37 |
| NC_000007.12:g.150276540C>T | NCBI36 |
| NG_008916.1:g.34408G>A , LRG_288:g.34408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3450G>A | ||
| ENST00000262186.10:c.2617G>A MANE Select | ENSP00000262186.5:p.Gly873Ser | |
| ENST00000330883.9:c.1597G>A | ENSP00000328531.4:p.Gly533Ser | |
| ENST00000262186.9:c.2617G>A | ENSP00000262186.5:p.Gly873Ser | |
| ENST00000330883.8:c.1597G>A | ENSP00000328531.4:p.Gly533Ser | |
| NM_000238.3:c.2617G>A , LRG_288t1:c.2617G>A | NP_000229.1:p.Gly873Ser | |
| NM_172057.2:c.1597G>A , LRG_288t3:c.1597G>A | NP_742054.1:p.Gly533Ser | |
| XM_011516185.1:c.2317G>A | XP_011514487.1:p.Gly773Ser | |
| XM_011516186.1:c.2617G>A | XP_011514488.1:p.Gly873Ser | |
| XM_011516185.2:c.2317G>A | XP_011514487.1:p.Gly773Ser | |
| XM_011516186.3:c.2617G>A | XP_011514488.1:p.Gly873Ser | |
| XM_017012195.1:c.2467G>A | XP_016867684.1:p.Gly823Ser | |
| XM_017012196.1:c.2440G>A | XP_016867685.1:p.Gly814Ser | |
| NM_000238.4:c.2617G>A MANE Select | NP_000229.1:p.Gly873Ser | |
| NM_172057.3:c.1597G>A | NP_742054.1:p.Gly533Ser |