Linked Data
ClinVar Variation Id:
39679
dbSNP Id:
rs375168720
ExAC:
8:38111160 G / C
gnomAD v2:
8-38111160-G-C
gnomAD v3:
8-38253642-G-C
gnomAD v4:
8-38253642-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38253642G>C , CM000670.2:g.38253642G>C | GRCh38 |
| NC_000008.10:g.38111160G>C , CM000670.1:g.38111160G>C | GRCh37 |
| NC_000008.9:g.38230317G>C | NCBI36 |
| NG_033875.1:g.27152G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1978G>C MANE Select | ENSP00000380352.2:p.Asp660His | |
| ENST00000397166.6:c.1978G>C | ENSP00000380352.2:p.Asp660His | |
| ENST00000517385.5:c.835G>C | ENSP00000429017.1:p.Asp279His | |
| ENST00000520176.5:n.2767G>C | ||
| ENST00000520272.6:c.1978G>C | ENSP00000429932.2:p.Asp660His | |
| ENST00000526144.1:c.483G>C | ||
| ENST00000528613.1:c.82G>C | ENSP00000435040.1:p.Asp28His | |
| ENST00000529845.5:c.331G>C | ENSP00000431638.1:p.Asp111His | |
| NM_001164232.1:c.1978G>C | NP_001157704.1:p.Asp660His | |
| NM_015214.2:c.1978G>C | NP_056029.2:p.Asp660His | |
| XM_005273454.1:c.1978G>C | XP_005273511.1:p.Asp660His | |
| XM_005273455.2:c.1978G>C | XP_005273512.1:p.Asp660His | |
| XM_005273456.2:c.1888G>C | XP_005273513.1:p.Asp630His | |
| XM_005273457.2:c.835G>C | XP_005273514.1:p.Asp279His | |
| XM_011544455.1:c.1978G>C | XP_011542757.1:p.Asp660His | |
| XM_011544456.1:c.1978G>C | XP_011542758.1:p.Asp660His | |
| XR_949383.1:n.2503G>C | ||
| XR_949384.1:n.2503G>C | ||
| XR_949385.1:n.2503G>C | ||
| XR_949386.1:n.2503G>C | ||
| XR_949387.1:n.2503G>C | ||
| NM_001362911.1:c.1978G>C | NP_001349840.1:p.Asp660His | |
| NM_001362912.1:c.1978G>C | NP_001349841.1:p.Asp660His | |
| NM_001362913.1:c.1888G>C | NP_001349842.1:p.Asp630His | |
| NM_001362914.1:c.1978G>C | NP_001349843.1:p.Asp660His | |
| NR_156416.1:n.2287G>C | ||
| NR_156417.1:n.2287G>C | ||
| XM_011544456.2:c.1978G>C | XP_011542758.1:p.Asp660His | |
| XM_017013255.2:c.835G>C | XP_016868744.1:p.Asp279His | |
| XR_001745504.2:n.2261G>C | ||
| XR_001745506.2:n.2193G>C | ||
| NM_001362911.2:c.1978G>C | NP_001349840.1:p.Asp660His | |
| NM_001362912.2:c.1978G>C | NP_001349841.1:p.Asp660His | |
| NM_015214.3:c.1978G>C MANE Select | NP_056029.2:p.Asp660His | |
| NR_156417.2:n.2193G>C | ||
| NM_001164232.2:c.1978G>C | NP_001157704.1:p.Asp660His | |
| NM_001362913.2:c.1888G>C | NP_001349842.1:p.Asp630His | |
| NM_001362914.2:c.1978G>C | NP_001349843.1:p.Asp660His | |
| NR_156416.2:n.2193G>C |