Linked Data
ClinVar Variation Id:
211199
ClinVar RCV Id:
RCV000194753
dbSNP Id:
rs755298967
ExAC:
19:7293819 G / T
gnomAD v3:
19-7293808-G-T
gnomAD v4:
19-7293808-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7293808G>T , CM000681.2:g.7293808G>T | GRCh38 |
| NC_000019.9:g.7293819G>T , CM000681.1:g.7293819G>T | GRCh37 |
| NC_000019.8:g.7244819G>T | NCBI36 |
| NG_008852.2:g.5193C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.84C>A MANE Select | ENSP00000303830.4:p.His28Gln | |
| ENST00000302850.9:c.84C>A | ENSP00000303830.4:p.His28Gln | |
| ENST00000341500.9:c.84C>A | ENSP00000342838.4:p.His28Gln | |
| ENST00000598216.1:n.59C>A | ||
| NM_000208.2:c.84C>A | NP_000199.2:p.His28Gln | |
| NM_000208.3:c.84C>A | NP_000199.2:p.His28Gln | |
| NM_001079817.1:c.84C>A | NP_001073285.1:p.His28Gln | |
| NM_001079817.2:c.84C>A | NP_001073285.1:p.His28Gln | |
| XM_011527988.2:c.84C>A | XP_011526290.2:p.His28Gln | |
| XM_011527989.3:c.84C>A | XP_011526291.2:p.His28Gln | |
| NM_000208.4:c.84C>A MANE Select | NP_000199.2:p.His28Gln | |
| NM_001079817.3:c.84C>A | NP_001073285.1:p.His28Gln |