Linked Data
ClinVar Variation Id:
179117
ClinVar RCV Id:
RCV000155902
RCV000284494
RCV000376698
RCV000586070
RCV000654926
RCV000764405
RCV003448272
RCV003298167
dbSNP Id:
rs727504641
ExAC:
2:39249849 C / T
gnomAD v2:
2-39249849-C-T
gnomAD v3:
2-39022708-C-T
gnomAD v4:
2-39022708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022708C>T , CM000664.2:g.39022708C>T | GRCh38 |
| NC_000002.11:g.39249849C>T , CM000664.1:g.39249849C>T | GRCh37 |
| NC_000002.10:g.39103353C>T | NCBI36 |
| NG_007530.1:g.102756G>A , LRG_754:g.102756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1600G>A | ||
| ENST00000685279.1:c.487G>A | ENSP00000509424.1:p.Val163Ile | |
| ENST00000688043.1:n.1941G>A | ||
| ENST00000689668.1:n.1727G>A | ||
| ENST00000690876.1:c.1609G>A | ENSP00000508955.1:p.Val537Ile | |
| ENST00000691229.1:c.1609G>A | ENSP00000510437.1:p.Val537Ile | |
| ENST00000692089.1:c.1609G>A | ENSP00000508626.1:p.Val537Ile | |
| ENST00000692620.1:c.487G>A | ENSP00000509311.1:p.Val163Ile | |
| ENST00000402219.8:c.1720G>A MANE Select | ENSP00000384675.2:p.Val574Ile | |
| ENST00000395038.6:c.1720G>A | ENSP00000378479.2:p.Val574Ile | |
| ENST00000402219.6:c.1720G>A | ENSP00000384675.2:p.Val574Ile | |
| ENST00000426016.5:c.1720G>A | ENSP00000387784.1:p.Val574Ile | |
| NM_005633.3:c.1720G>A , LRG_754t1:c.1720G>A | NP_005624.2:p.Val574Ile | |
| XM_005264515.3:c.1720G>A | XP_005264572.1:p.Val574Ile | |
| XM_011533060.1:c.1813G>A | XP_011531362.1:p.Val605Ile | |
| XM_011533061.1:c.1813G>A | XP_011531363.1:p.Val605Ile | |
| XM_011533062.1:c.1699G>A | XP_011531364.1:p.Val567Ile | |
| XM_011533063.1:c.1696G>A | XP_011531365.1:p.Val566Ile | |
| XM_011533064.1:c.1549G>A | XP_011531366.1:p.Val517Ile | |
| XM_011533065.1:c.1813G>A | XP_011531367.1:p.Val605Ile | |
| XM_011533066.1:c.655G>A | XP_011531368.1:p.Val219Ile | |
| XM_005264515.4:c.1720G>A | XP_005264572.1:p.Val574Ile | |
| XM_011533062.2:c.1699G>A | XP_011531364.1:p.Val567Ile | |
| XM_011533064.2:c.1549G>A | XP_011531366.1:p.Val517Ile | |
| NM_001382394.1:c.1699G>A | NP_001369323.1:p.Val567Ile | |
| NM_001382395.1:c.1720G>A | NP_001369324.1:p.Val574Ile | |
| NM_005633.4:c.1720G>A MANE Select | NP_005624.2:p.Val574Ile |