Linked Data
ClinVar Variation Id:
180375
ClinVar RCV Id:
RCV000157250
RCV000223572
RCV000333556
RCV000474354
RCV000769491
RCV001094480
RCV001719985
RCV002381507
dbSNP Id:
rs78437817
ExAC:
17:39919366 C / T
gnomAD v2:
17-39919366-C-T
gnomAD v3:
17-41763114-C-T
gnomAD v4:
17-41763114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41763114C>T , CM000679.2:g.41763114C>T | GRCh38 |
| NC_000017.10:g.39919366C>T , CM000679.1:g.39919366C>T | GRCh37 |
| NC_000017.9:g.37172892C>T | NCBI36 |
| NG_009090.2:g.28599G>A , LRG_401:g.28599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.1366G>A MANE Select | ENSP00000377508.3:p.Val456Ile | |
| ENST00000310706.9:c.1366G>A | ENSP00000311113.5:p.Val456Ile | |
| ENST00000393930.5:c.1366G>A | ENSP00000377507.1:p.Val456Ile | |
| ENST00000393931.7:c.1366G>A | ENSP00000377508.3:p.Val456Ile | |
| NM_002230.2:c.1366G>A , LRG_401t2:c.1366G>A | NP_002221.1:p.Val456Ile | |
| NM_021991.2:c.1366G>A , LRG_401t1:c.1366G>A | NP_068831.1:p.Val456Ile | |
| XM_006721873.1:c.1366G>A | XP_006721936.1:p.Val456Ile | |
| XM_006721874.1:c.1366G>A | XP_006721937.1:p.Val456Ile | |
| XM_006721875.1:c.1366G>A | XP_006721938.1:p.Val456Ile | |
| XM_006721878.1:c.1366G>A | XP_006721941.1:p.Val456Ile | |
| XM_011524753.1:c.1366G>A | XP_011523055.1:p.Val456Ile | |
| XM_011524754.1:c.1366G>A | XP_011523056.1:p.Val456Ile | |
| XM_011524755.1:c.1366G>A | XP_011523057.1:p.Val456Ile | |
| XM_011524756.1:c.1366G>A | XP_011523058.1:p.Val456Ile | |
| XM_011524757.1:c.1366G>A | XP_011523059.1:p.Val456Ile | |
| XM_011524758.1:c.1366G>A | XP_011523060.1:p.Val456Ile | |
| NM_001352773.1:c.1366G>A | NP_001339702.1:p.Val456Ile | |
| NM_001352774.1:c.1366G>A | NP_001339703.1:p.Val456Ile | |
| NM_001352775.1:c.1366G>A | NP_001339704.1:p.Val456Ile | |
| NM_001352776.1:c.1366G>A | NP_001339705.1:p.Val456Ile | |
| NM_001352777.1:c.1366G>A | NP_001339706.1:p.Val456Ile | |
| NM_002230.3:c.1366G>A | NP_002221.1:p.Val456Ile | |
| NM_021991.3:c.1366G>A | NP_068831.1:p.Val456Ile | |
| XM_006721874.3:c.1366G>A | XP_006721937.1:p.Val456Ile | |
| XM_011524753.2:c.1366G>A | XP_011523055.1:p.Val456Ile | |
| XM_017024588.2:c.1417G>A | XP_016880077.1:p.Val473Ile | |
| XM_017024590.1:c.1366G>A | XP_016880079.1:p.Val456Ile | |
| NM_002230.4:c.1366G>A MANE Select | NP_002221.1:p.Val456Ile | |
| NM_001352773.2:c.1366G>A | NP_001339702.1:p.Val456Ile | |
| NM_001352774.2:c.1366G>A | NP_001339703.1:p.Val456Ile | |
| NM_001352775.2:c.1366G>A | NP_001339704.1:p.Val456Ile | |
| NM_001352776.2:c.1366G>A | NP_001339705.1:p.Val456Ile | |
| NM_001352777.2:c.1366G>A | NP_001339706.1:p.Val456Ile | |
| NM_021991.4:c.1366G>A | NP_068831.1:p.Val456Ile |