Linked Data
ClinVar Variation Id:
209185
dbSNP Id:
rs146571352
ExAC:
2:55874559 C / T
gnomAD v2:
2-55874559-C-T
gnomAD v3:
2-55647424-C-T
gnomAD v4:
2-55647424-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55647424C>T , CM000664.2:g.55647424C>T | GRCh38 |
| NC_000002.11:g.55874559C>T , CM000664.1:g.55874559C>T | GRCh37 |
| NC_000002.10:g.55728063C>T | NCBI36 |
| NG_033012.1:g.51487G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447944.7:c.1525G>A MANE Select | ENSP00000400646.2:p.Val509Ile | |
| ENST00000260604.8:c.*1080G>A | ENSP00000260604.4:n.*1080G>A | |
| ENST00000415374.5:c.1525G>A | ENSP00000393953.1:p.Val509Ile | |
| ENST00000415489.1:c.532G>A | ||
| ENST00000447944.6:c.1525G>A | ENSP00000400646.2:p.Val509Ile | |
| NM_033109.4:c.1525G>A | NP_149100.2:p.Val509Ile | |
| XM_005264629.1:c.1285G>A | XP_005264686.1:p.Val429Ile | |
| XM_011533142.1:c.*57G>A | XP_011531444.1:n.*57G>A | |
| XM_005264629.2:c.1285G>A | XP_005264686.1:p.Val429Ile | |
| XM_017005172.1:c.1285G>A | XP_016860661.1:p.Val429Ile | |
| XR_001739010.1:n.1602G>A | ||
| NM_033109.5:c.1525G>A MANE Select | NP_149100.2:p.Val509Ile |