Linked Data
ClinVar Variation Id:
1129453
ClinVar RCV Id:
RCV001462589
dbSNP Id:
rs41311000
gnomAD v4:
7-150949000-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949000G>C , CM000669.2:g.150949000G>C | GRCh38 |
| NC_000007.13:g.150646088G>C , CM000669.1:g.150646088G>C | GRCh37 |
| NC_000007.12:g.150277021G>C | NCBI36 |
| NG_008916.1:g.33927C>G , LRG_288:g.33927C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3281C>G | ||
| ENST00000262186.10:c.2448C>G MANE Select | ENSP00000262186.5:p.Gly816= | |
| ENST00000330883.9:c.1428C>G | ENSP00000328531.4:p.Gly476= | |
| ENST00000262186.9:c.2448C>G | ENSP00000262186.5:p.Gly816= | |
| ENST00000330883.8:c.1428C>G | ENSP00000328531.4:p.Gly476= | |
| NM_000238.3:c.2448C>G , LRG_288t1:c.2448C>G | NP_000229.1:p.Gly816= | |
| NM_172057.2:c.1428C>G , LRG_288t3:c.1428C>G | NP_742054.1:p.Gly476= | |
| XM_011516185.1:c.2148C>G | XP_011514487.1:p.Gly716= | |
| XM_011516186.1:c.2448C>G | XP_011514488.1:p.Gly816= | |
| XM_011516185.2:c.2148C>G | XP_011514487.1:p.Gly716= | |
| XM_011516186.3:c.2448C>G | XP_011514488.1:p.Gly816= | |
| XM_017012195.1:c.2298C>G | XP_016867684.1:p.Gly766= | |
| XM_017012196.1:c.2271C>G | XP_016867685.1:p.Gly757= | |
| NM_000238.4:c.2448C>G MANE Select | NP_000229.1:p.Gly816= | |
| NM_172057.3:c.1428C>G | NP_742054.1:p.Gly476= |