Linked Data
ClinVar Variation Id:
1900271
ClinVar RCV Id:
RCV002576432
dbSNP Id:
rs144511865
gnomAD v4:
19-45352757-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352757G>C , CM000681.2:g.45352757G>C | GRCh38 |
| NC_000019.9:g.45856015G>C , CM000681.1:g.45856015G>C | GRCh37 |
| NC_000019.8:g.50547855G>C | NCBI36 |
| NG_007067.2:g.22831C>G , LRG_461:g.22831C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1891C>G | ENSP00000375808.4:p.Arg631Gly | |
| ENST00000682414.1:c.1891C>G | ENSP00000507019.1:p.Arg631Gly | |
| ENST00000682508.1:n.1920C>G | ||
| ENST00000684218.1:c.*1149C>G | ENSP00000507804.1:n.*1149C>G | |
| ENST00000684264.1:n.1447C>G | ||
| ENST00000684407.1:c.1768C>G | ENSP00000507775.1:p.Arg590Gly | |
| ENST00000684458.1:c.*377C>G | ENSP00000508260.1:n.*377C>G | |
| ENST00000684468.1:n.1603C>G | ||
| ENST00000391945.10:c.1891C>G MANE Select | ENSP00000375809.4:p.Arg631Gly | |
| ENST00000646507.1:n.1988C>G | ||
| ENST00000391941.6:c.1819C>G | ENSP00000375805.2:p.Arg607Gly | |
| ENST00000391942.6:n.1062C>G | ||
| ENST00000391944.7:c.1657C>G | ENSP00000375808.3:p.Arg553Gly | |
| ENST00000391945.8:c.1891C>G | ENSP00000375809.3:p.Arg631Gly | |
| ENST00000588652.5:n.1979C>G | ||
| NM_000400.3:c.1891C>G , LRG_461t1:c.1891C>G | NP_000391.1:p.Arg631Gly | |
| XM_011526611.1:c.1813C>G | XP_011524913.1:p.Arg605Gly | |
| XM_011526611.2:c.1813C>G | XP_011524913.1:p.Arg605Gly | |
| XM_017026467.1:c.1768C>G | XP_016881956.1:p.Arg590Gly | |
| XR_001753633.2:n.1938C>G | ||
| XR_001753634.2:n.1874C>G | ||
| NM_000400.4:c.1891C>G MANE Select | NP_000391.1:p.Arg631Gly |