Linked Data
ClinVar Variation Id:
561347
dbSNP Id:
rs753909912
gnomAD v2:
2-39249903-C-T
gnomAD v4:
2-39022762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022762C>T , CM000664.2:g.39022762C>T | GRCh38 |
| NC_000002.11:g.39249903C>T , CM000664.1:g.39249903C>T | GRCh37 |
| NC_000002.10:g.39103407C>T | NCBI36 |
| NG_007530.1:g.102702G>A , LRG_754:g.102702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1546G>A | ||
| ENST00000685279.1:c.433G>A | ENSP00000509424.1:p.Val145Ile | |
| ENST00000688043.1:n.1887G>A | ||
| ENST00000689668.1:n.1673G>A | ||
| ENST00000690876.1:c.1555G>A | ENSP00000508955.1:p.Val519Ile | |
| ENST00000691229.1:c.1555G>A | ENSP00000510437.1:p.Val519Ile | |
| ENST00000692089.1:c.1555G>A | ENSP00000508626.1:p.Val519Ile | |
| ENST00000692620.1:c.433G>A | ENSP00000509311.1:p.Val145Ile | |
| ENST00000402219.8:c.1666G>A MANE Select | ENSP00000384675.2:p.Val556Ile | |
| ENST00000395038.6:c.1666G>A | ENSP00000378479.2:p.Val556Ile | |
| ENST00000402219.6:c.1666G>A | ENSP00000384675.2:p.Val556Ile | |
| ENST00000426016.5:c.1666G>A | ENSP00000387784.1:p.Val556Ile | |
| NM_005633.3:c.1666G>A , LRG_754t1:c.1666G>A | NP_005624.2:p.Val556Ile | |
| XM_005264515.3:c.1666G>A | XP_005264572.1:p.Val556Ile | |
| XM_011533060.1:c.1759G>A | XP_011531362.1:p.Val587Ile | |
| XM_011533061.1:c.1759G>A | XP_011531363.1:p.Val587Ile | |
| XM_011533062.1:c.1645G>A | XP_011531364.1:p.Val549Ile | |
| XM_011533063.1:c.1642G>A | XP_011531365.1:p.Val548Ile | |
| XM_011533064.1:c.1495G>A | XP_011531366.1:p.Val499Ile | |
| XM_011533065.1:c.1759G>A | XP_011531367.1:p.Val587Ile | |
| XM_011533066.1:c.601G>A | XP_011531368.1:p.Val201Ile | |
| XM_005264515.4:c.1666G>A | XP_005264572.1:p.Val556Ile | |
| XM_011533062.2:c.1645G>A | XP_011531364.1:p.Val549Ile | |
| XM_011533064.2:c.1495G>A | XP_011531366.1:p.Val499Ile | |
| NM_001382394.1:c.1645G>A | NP_001369323.1:p.Val549Ile | |
| NM_001382395.1:c.1666G>A | NP_001369324.1:p.Val556Ile | |
| NM_005633.4:c.1666G>A MANE Select | NP_005624.2:p.Val556Ile |