Linked Data
ClinVar Variation Id:
623338
ClinVar RCV Id:
RCV000761480
dbSNP Id:
rs561343926
ExAC:
5:125882025 C / T
gnomAD v2:
5-125882025-C-T
gnomAD v3:
5-126546333-C-T
gnomAD v4:
5-126546333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546333C>T , CM000667.2:g.126546333C>T | GRCh38 |
| NC_000005.9:g.125882025C>T , CM000667.1:g.125882025C>T | GRCh37 |
| NC_000005.8:g.125909924C>T | NCBI36 |
| NG_008600.2:g.54058G>A | |
| NG_008600.3:g.54058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1556G>A MANE Select | ENSP00000387123.3:p.Arg519Lys | |
| ENST00000458249.6:c.*1465G>A | ENSP00000403929.1:n.*1465G>A | |
| ENST00000485852.7:n.303G>A | ||
| ENST00000497231.7:n.1983G>A | ||
| ENST00000635851.1:c.1554G>A | ||
| ENST00000636286.1:n.1321G>A | ||
| ENST00000636482.1:n.1090G>A | ||
| ENST00000636743.1:c.1436G>A | ENSP00000489725.1:p.Arg479Lys | |
| ENST00000636808.1:c.*1365G>A | ENSP00000490833.1:n.*1365G>A | |
| ENST00000636872.1:c.1716G>A | ENSP00000490919.1:n.1716G>A | |
| ENST00000636879.1:c.1601G>A | ENSP00000490811.1:p.Arg534Lys | |
| ENST00000636886.1:c.1355G>A | ENSP00000490371.1:p.Arg452Lys | |
| ENST00000637206.1:c.1376G>A | ENSP00000489895.1:p.Arg459Lys | |
| ENST00000637272.1:c.1547G>A | ENSP00000489686.1:p.Arg516Lys | |
| ENST00000637292.1:c.1012G>A | ||
| ENST00000637782.1:c.1556G>A | ENSP00000490024.1:p.Arg519Lys | |
| ENST00000638008.1:c.*1400G>A | ENSP00000490400.1:n.*1400G>A | |
| ENST00000638010.1:n.1502G>A | ||
| ENST00000409134.7:c.1556G>A | ENSP00000387123.3:p.Arg519Lys | |
| ENST00000447989.6:c.1445G>A | ENSP00000414132.2:p.Arg482Lys | |
| ENST00000485852.6:n.303G>A | ||
| ENST00000497231.6:n.1766G>A | ||
| ENST00000553117.5:c.1364G>A | ENSP00000448593.1:p.Arg455Lys | |
| NM_001182.4:c.1556G>A | NP_001173.2:p.Arg519Lys | |
| NM_001201377.1:c.1472G>A | NP_001188306.1:p.Arg491Lys | |
| NM_001202404.1:c.1445G>A | NP_001189333.1:p.Arg482Lys | |
| XM_011543417.1:c.1151G>A | XP_011541719.1:p.Arg384Lys | |
| XM_011543417.2:c.1151G>A | XP_011541719.1:p.Arg384Lys | |
| NM_001182.5:c.1556G>A MANE Select | NP_001173.2:p.Arg519Lys | |
| NM_001201377.2:c.1472G>A | NP_001188306.1:p.Arg491Lys | |
| NM_001202404.2:c.1364G>A | NP_001189333.2:p.Arg455Lys |