Linked Data
ClinVar Variation Id:
1009290
ClinVar RCV Id:
RCV001306757
dbSNP Id:
rs183676062
ExAC:
8:27320787 G / T
gnomAD v2:
8-27320787-G-T
gnomAD v3:
8-27463270-G-T
gnomAD v4:
8-27463270-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463270G>T , CM000670.2:g.27463270G>T | GRCh38 |
| NC_000008.10:g.27320787G>T , CM000670.1:g.27320787G>T | GRCh37 |
| NC_000008.9:g.27376704G>T | NCBI36 |
| NG_015827.1:g.21027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1173C>A MANE Select | ENSP00000385026.1:p.His391Gln | |
| ENST00000240132.7:c.1128C>A | ENSP00000240132.2:p.His376Gln | |
| ENST00000407991.2:c.1173C>A | ENSP00000385026.1:p.His391Gln | |
| ENST00000520600.1:n.290-1516C>A | ||
| ENST00000520933.7:c.1107C>A | ENSP00000429616.2:p.His369Gln | |
| ENST00000523695.5:c.*575C>A | ENSP00000430612.1:n.*575C>A | |
| NM_000742.3:c.1173C>A | NP_000733.2:p.His391Gln | |
| NM_001282455.1:c.1128C>A | NP_001269384.1:p.His376Gln | |
| XM_005273397.1:c.696C>A | XP_005273454.1:p.His232Gln | |
| XM_006716282.1:c.1173C>A | XP_006716345.1:p.His391Gln | |
| XM_011544388.1:c.1173C>A | XP_011542690.1:p.His391Gln | |
| XM_011544389.1:c.579C>A | XP_011542691.1:p.His193Gln | |
| NM_001347705.1:c.696C>A | NP_001334634.1:p.His232Gln | |
| NM_001347706.1:c.696C>A | NP_001334635.1:p.His232Gln | |
| NM_001347707.1:c.579C>A | NP_001334636.1:p.His193Gln | |
| NM_001347708.1:c.579C>A | NP_001334637.1:p.His193Gln | |
| XM_011544389.2:c.579C>A | XP_011542691.1:p.His193Gln | |
| NM_000742.4:c.1173C>A MANE Select | NP_000733.2:p.His391Gln | |
| NM_001282455.2:c.1128C>A | NP_001269384.1:p.His376Gln | |
| NM_001347705.2:c.696C>A | NP_001334634.1:p.His232Gln | |
| NM_001347706.2:c.696C>A | NP_001334635.1:p.His232Gln | |
| NM_001347707.2:c.579C>A | NP_001334636.1:p.His193Gln | |
| NM_001347708.2:c.579C>A | NP_001334637.1:p.His193Gln |