Linked Data
ClinVar Variation Id:
746544
ClinVar RCV Id:
RCV000923160
dbSNP Id:
rs571762988
ExAC:
10:74127959 T / C
gnomAD v2:
10-74127959-T-C
gnomAD v3:
10-72368201-T-C
gnomAD v4:
10-72368201-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72368201T>C , CM000672.2:g.72368201T>C | GRCh38 |
| NC_000010.10:g.74127959T>C , CM000672.1:g.74127959T>C | GRCh37 |
| NC_000010.9:g.73797965T>C | NCBI36 |
| NG_033179.1:g.262991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.1425A>G MANE Select | ENSP00000354415.5:p.Lys475= | |
| ENST00000642044.1:c.1443A>G | ENSP00000493232.1:p.Lys481= | |
| ENST00000361114.9:c.1425A>G | ENSP00000354415.5:p.Lys475= | |
| ENST00000398761.8:c.1431A>G | ENSP00000381745.5:p.Lys477= | |
| ENST00000398763.8:c.831A>G | ENSP00000381747.4:p.Lys277= | |
| ENST00000418483.6:c.831A>G | ENSP00000402470.2:p.Lys277= | |
| ENST00000476605.7:c.1072A>G | ||
| ENST00000635239.1:c.1437A>G | ENSP00000489563.1:p.Lys479= | |
| NM_001195518.1:c.1425A>G | NP_001182447.1:p.Lys475= | |
| NM_001195519.1:c.831A>G | NP_001182448.1:p.Lys277= | |
| NM_006077.3:c.1431A>G | NP_006068.2:p.Lys477= | |
| XM_005269383.1:c.1443A>G | XP_005269440.1:p.Lys481= | |
| XM_005269384.1:c.1437A>G | XP_005269441.1:p.Lys479= | |
| XM_005269386.1:c.741A>G | XP_005269443.1:p.Lys247= | |
| XM_011539119.1:c.1593A>G | XP_011537421.1:p.Lys531= | |
| XR_945586.1:n.1632A>G | ||
| NM_001363513.1:c.1443A>G | NP_001350442.1:p.Lys481= | |
| XM_005269386.2:c.741A>G | XP_005269443.1:p.Lys247= | |
| XR_001746993.2:n.1801A>G | ||
| XR_001746994.2:n.1639A>G | ||
| XR_945586.2:n.1633A>G | ||
| NM_001195518.2:c.1425A>G MANE Select | NP_001182447.1:p.Lys475= | |
| NM_001195519.2:c.831A>G | NP_001182448.1:p.Lys277= | |
| NM_001363513.2:c.1443A>G | NP_001350442.1:p.Lys481= | |
| NM_006077.4:c.1431A>G | NP_006068.2:p.Lys477= |