Linked Data
ClinVar Variation Id:
1503293
dbSNP Id:
rs775468968
ExAC:
9:26905983 C / G
gnomAD v2:
9-26905983-C-G
gnomAD v3:
9-26905985-C-G
gnomAD v4:
9-26905985-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905985C>G , CM000671.2:g.26905985C>G | GRCh38 |
| NC_000009.11:g.26905983C>G , CM000671.1:g.26905983C>G | GRCh37 |
| NC_000009.10:g.26895983C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.1914G>C MANE Select | ENSP00000380460.3:p.Gln638His | |
| ENST00000397292.7:c.1914G>C | ENSP00000380460.3:p.Gln638His | |
| ENST00000517642.5:c.766G>C | ||
| NM_001031689.2:c.1914G>C | NP_001026859.1:p.Gln638His | |
| XM_011518071.1:c.1845G>C | XP_011516373.1:p.Gln615His | |
| NM_001321546.1:c.1845G>C | NP_001308475.1:p.Gln615His | |
| XR_001746420.2:n.2219G>C | ||
| NM_001031689.3:c.1914G>C MANE Select | NP_001026859.1:p.Gln638His | |
| NM_001321546.2:c.1845G>C | NP_001308475.1:p.Gln615His |