Linked Data
ClinVar Variation Id:
774911
dbSNP Id:
rs139856422
ExAC:
14:100405588 A / G
gnomAD v2:
14-100405588-A-G
gnomAD v3:
14-99939251-A-G
gnomAD v4:
14-99939251-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99939251A>G , CM000676.2:g.99939251A>G | GRCh38 |
| NC_000014.8:g.100405588A>G , CM000676.1:g.100405588A>G | GRCh37 |
| NC_000014.7:g.99475341A>G | NCBI36 |
| NG_052827.1:g.206553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.2246A>G MANE Select | ENSP00000262233.7:p.His749Arg | |
| ENST00000649352.1:c.2321A>G | ENSP00000498100.1:p.His774Arg | |
| ENST00000262233.10:c.2246A>G | ENSP00000262233.6:p.His749Arg | |
| ENST00000327921.13:c.2210A>G | ENSP00000327384.9:p.His737Arg | |
| ENST00000334192.8:c.2303A>G | ENSP00000334314.4:p.His768Arg | |
| ENST00000553313.1:n.319A>G | ||
| NM_001008707.1:c.2303A>G | NP_001008707.1:p.His768Arg | |
| NM_004434.2:c.2246A>G | NP_004425.2:p.His749Arg | |
| XM_005267397.1:c.2303A>G | XP_005267454.1:p.His768Arg | |
| XM_005267398.3:c.2264A>G | XP_005267455.1:p.His755Arg | |
| XM_005267399.3:c.2321A>G | XP_005267456.2:p.His774Arg | |
| XM_005267400.3:c.2207A>G | XP_005267457.1:p.His736Arg | |
| XM_011536540.1:c.2264A>G | XP_011534842.1:p.His755Arg | |
| XM_011536541.1:c.2210A>G | XP_011534843.1:p.His737Arg | |
| XM_011536542.1:c.2189A>G | XP_011534844.1:p.His730Arg | |
| XM_005267399.4:c.2321A>G | XP_005267456.2:p.His774Arg | |
| XM_005267400.4:c.2207A>G | XP_005267457.1:p.His736Arg | |
| XM_011536540.2:c.2264A>G | XP_011534842.1:p.His755Arg | |
| XM_011536542.3:c.2189A>G | XP_011534844.1:p.His730Arg | |
| XM_017021074.2:c.2114A>G | XP_016876563.1:p.His705Arg | |
| XM_024449507.1:c.1682A>G | XP_024305275.1:p.His561Arg | |
| NM_001008707.2:c.2303A>G | NP_001008707.1:p.His768Arg | |
| NM_001375411.1:c.2207A>G | NP_001362340.1:p.His736Arg | |
| NM_001375412.1:c.2114A>G | NP_001362341.1:p.His705Arg | |
| NM_004434.3:c.2246A>G MANE Select | NP_004425.2:p.His749Arg |