Linked Data
ClinVar Variation Id:
211191
ClinVar RCV Id:
RCV000193115
dbSNP Id:
rs146698985
ExAC:
19:7143076 C / T
gnomAD v2:
19-7143076-C-T
gnomAD v3:
19-7143065-C-T
gnomAD v4:
19-7143065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7143065C>T , CM000681.2:g.7143065C>T | GRCh38 |
| NC_000019.9:g.7143076C>T , CM000681.1:g.7143076C>T | GRCh37 |
| NC_000019.8:g.7094076C>T | NCBI36 |
| NG_008852.2:g.155936G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.2293G>A MANE Select | ENSP00000303830.4:p.Gly765Ser | |
| ENST00000302850.9:c.2293G>A | ENSP00000303830.4:p.Gly765Ser | |
| ENST00000341500.9:c.2257G>A | ENSP00000342838.4:p.Gly753Ser | |
| NM_000208.2:c.2293G>A | NP_000199.2:p.Gly765Ser | |
| NM_000208.3:c.2293G>A | NP_000199.2:p.Gly765Ser | |
| NM_001079817.1:c.2257G>A | NP_001073285.1:p.Gly753Ser | |
| NM_001079817.2:c.2257G>A | NP_001073285.1:p.Gly753Ser | |
| XM_011527988.1:c.2371G>A | XP_011526290.1:p.Gly791Ser | |
| XM_011527989.1:c.2335G>A | XP_011526291.1:p.Gly779Ser | |
| XM_011527988.2:c.2293G>A | XP_011526290.2:p.Gly765Ser | |
| XM_011527989.3:c.2257G>A | XP_011526291.2:p.Gly753Ser | |
| NM_000208.4:c.2293G>A MANE Select | NP_000199.2:p.Gly765Ser | |
| NM_001079817.3:c.2257G>A | NP_001073285.1:p.Gly753Ser |