Linked Data
ClinVar Variation Id:
14693
ClinVar RCV Id:
RCV000015808
dbSNP Id:
rs121913145
ExAC:
19:7184594 T / C
gnomAD v2:
19-7184594-T-C
gnomAD v3:
19-7184583-T-C
gnomAD v4:
19-7184583-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7184583T>C , CM000681.2:g.7184583T>C | GRCh38 |
| NC_000019.9:g.7184594T>C , CM000681.1:g.7184594T>C | GRCh37 |
| NC_000019.8:g.7135594T>C | NCBI36 |
| NG_008852.2:g.114418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.707A>G MANE Select | ENSP00000303830.4:p.His236Arg | |
| ENST00000302850.9:c.707A>G | ENSP00000303830.4:p.His236Arg | |
| ENST00000341500.9:c.707A>G | ENSP00000342838.4:p.His236Arg | |
| ENST00000598216.1:n.682A>G | ||
| NM_000208.2:c.707A>G | NP_000199.2:p.His236Arg | |
| NM_000208.3:c.707A>G | NP_000199.2:p.His236Arg | |
| NM_001079817.1:c.707A>G | NP_001073285.1:p.His236Arg | |
| NM_001079817.2:c.707A>G | NP_001073285.1:p.His236Arg | |
| XM_011527988.1:c.785A>G | XP_011526290.1:p.His262Arg | |
| XM_011527989.1:c.785A>G | XP_011526291.1:p.His262Arg | |
| XM_011527988.2:c.707A>G | XP_011526290.2:p.His236Arg | |
| XM_011527989.3:c.707A>G | XP_011526291.2:p.His236Arg | |
| NM_000208.4:c.707A>G MANE Select | NP_000199.2:p.His236Arg | |
| NM_001079817.3:c.707A>G | NP_001073285.1:p.His236Arg |