Linked Data
ClinVar Variation Id:
2050416
ClinVar RCV Id:
RCV002914504
gnomAD v4:
5-126549957-T-G
MyVariant Identifiers:
chr5:g.125885649T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126549957T>G , CM000667.2:g.126549957T>G | GRCh38 |
| NC_000005.9:g.125885649T>G , CM000667.1:g.125885649T>G | GRCh37 |
| NC_000005.8:g.125913548T>G | NCBI36 |
| NG_008600.2:g.50434A>C | |
| NG_008600.3:g.50434A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1461A>C MANE Select | ENSP00000387123.3:p.Thr487= | |
| ENST00000458249.6:c.*1370A>C | ENSP00000403929.1:n.*1370A>C | |
| ENST00000485852.7:n.208A>C | ||
| ENST00000497231.7:n.1888A>C | ||
| ENST00000635851.1:c.1459A>C | ||
| ENST00000636062.1:n.1356A>C | ||
| ENST00000636225.1:c.*1405A>C | ENSP00000490797.1:n.*1405A>C | |
| ENST00000636286.1:n.1226A>C | ||
| ENST00000636482.1:n.995A>C | ||
| ENST00000636743.1:c.1341A>C | ENSP00000489725.1:p.Thr447= | |
| ENST00000636808.1:c.*1270A>C | ENSP00000490833.1:n.*1270A>C | |
| ENST00000636872.1:c.1621A>C | ENSP00000490919.1:n.1621A>C | |
| ENST00000636879.1:c.1506A>C | ENSP00000490811.1:p.Thr502= | |
| ENST00000636886.1:c.1260A>C | ENSP00000490371.1:p.Thr420= | |
| ENST00000637206.1:c.1281A>C | ENSP00000489895.1:p.Thr427= | |
| ENST00000637272.1:c.1452A>C | ENSP00000489686.1:p.Thr484= | |
| ENST00000637292.1:c.917A>C | ||
| ENST00000637782.1:c.1461A>C | ENSP00000490024.1:p.Thr487= | |
| ENST00000638008.1:c.*1305A>C | ENSP00000490400.1:n.*1305A>C | |
| ENST00000638010.1:n.1407A>C | ||
| ENST00000409134.7:c.1461A>C | ENSP00000387123.3:p.Thr487= | |
| ENST00000447989.6:c.1350A>C | ENSP00000414132.2:p.Thr450= | |
| ENST00000476328.1:n.419A>C | ||
| ENST00000485852.6:n.208A>C | ||
| ENST00000497231.6:n.1671A>C | ||
| ENST00000553117.5:c.1269A>C | ENSP00000448593.1:p.Thr423= | |
| NM_001182.4:c.1461A>C | NP_001173.2:p.Thr487= | |
| NM_001201377.1:c.1377A>C | NP_001188306.1:p.Thr459= | |
| NM_001202404.1:c.1350A>C | NP_001189333.1:p.Thr450= | |
| XM_011543417.1:c.1056A>C | XP_011541719.1:p.Thr352= | |
| XM_011543417.2:c.1056A>C | XP_011541719.1:p.Thr352= | |
| NM_001182.5:c.1461A>C MANE Select | NP_001173.2:p.Thr487= | |
| NM_001201377.2:c.1377A>C | NP_001188306.1:p.Thr459= | |
| NM_001202404.2:c.1269A>C | NP_001189333.2:p.Thr423= |