Linked Data
ClinVar Variation Id:
438169
ClinVar RCV Id:
RCV000504938
dbSNP Id:
rs1554117973
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791346G>C , CM000667.2:g.90791346G>C | GRCh38 |
| NC_000005.9:g.90087163G>C , CM000667.1:g.90087163G>C | GRCh37 |
| NC_000005.8:g.90122919G>C | NCBI36 |
| NG_007083.1:g.237547G>C | |
| NG_007083.2:g.267003G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14517G>C MANE Select | ENSP00000384582.2:p.Gln4839His | |
| ENST00000425867.3:c.3471G>C | ENSP00000392618.3:p.Gln1157His | |
| ENST00000507314.2:c.192G>C | ENSP00000491299.1:p.Gln64His | |
| ENST00000638510.1:n.1784G>C | ||
| ENST00000638585.1:n.283G>C | ||
| ENST00000638975.1:c.1146G>C | ENSP00000492630.1:p.Gln382His | |
| ENST00000639431.1:c.265+115137G>C | ENSP00000491057.1:n.265+115137G>C | |
| ENST00000640407.1:c.927G>C | ENSP00000491425.1:p.Gln309His | |
| ENST00000405460.6:c.14517G>C | ENSP00000384582.2:p.Gln4839His | |
| ENST00000425867.2:c.1500G>C | ENSP00000392618.2:p.Gln500His | |
| ENST00000507314.1:n.192G>C | ||
| NM_032119.3:c.14517G>C | NP_115495.3:p.Gln4839His | |
| NR_003149.1:n.14530G>C | ||
| XM_011543675.1:c.14514G>C | XP_011541977.1:p.Gln4838His | |
| XM_011543676.1:c.14436G>C | XP_011541978.1:p.Gln4812His | |
| XM_011543677.1:c.11820G>C | XP_011541979.1:p.Gln3940His | |
| XM_011543678.1:c.14517G>C | XP_011541980.1:p.Gln4839His | |
| NM_032119.4:c.14517G>C MANE Select | NP_115495.3:p.Gln4839His | |
| XM_017009963.2:c.14538G>C | XP_016865452.1:p.Gln4846His | |
| XM_017009964.2:c.14535G>C | XP_016865453.1:p.Gln4845His | |
| XM_017009965.1:c.14535G>C | XP_016865454.1:p.Gln4845His | |
| XM_017009966.2:c.14457G>C | XP_016865455.1:p.Gln4819His | |
| XM_017009967.1:c.14442G>C | XP_016865456.1:p.Gln4814His | |
| XM_017009968.2:c.14538G>C | XP_016865457.1:p.Gln4846His | |
| XM_017009969.2:c.14538G>C | XP_016865458.1:p.Gln4846His | |
| XM_017009970.2:c.14538G>C | XP_016865459.1:p.Gln4846His | |
| XM_017009971.2:c.14538G>C | XP_016865460.1:p.Gln4846His | |
| XM_017009972.1:c.7656G>C | XP_016865461.1:p.Gln2552His | |
| XM_017009973.1:c.7635G>C | XP_016865462.1:p.Gln2545His | |
| NR_003149.2:n.14533G>C |