Linked Data
ClinVar Variation Id:
97869
ClinVar RCV Id:
RCV000374813
RCV001529388
RCV000755646
RCV001811397
RCV001781428
RCV002260988
RCV002514482
dbSNP Id:
rs5743291
ExAC:
16:50757276 G / A
gnomAD v2:
16-50757276-G-A
gnomAD v3:
16-50723365-G-A
gnomAD v4:
16-50723365-G-A
PubMed:
PMID:17698784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50723365G>A , CM000678.2:g.50723365G>A | GRCh38 |
| NC_000016.9:g.50757276G>A , CM000678.1:g.50757276G>A | GRCh37 |
| NC_000016.8:g.49314777G>A | NCBI36 |
| NG_007508.1:g.31227G>A , LRG_177:g.31227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-6453G>A | ENSP00000493088.1:n.2382-6453G>A | |
| ENST00000646677.2:c.*547G>A | ENSP00000496533.1:n.*547G>A | |
| ENST00000697425.1:c.609G>A | ||
| ENST00000697426.1:c.497G>A | ||
| ENST00000697427.1:c.413G>A | ||
| ENST00000697428.1:n.2260G>A | ||
| ENST00000641284.1:c.2382-6453G>A | ENSP00000493088.1:n.2382-6453G>A | |
| ENST00000646677.1:c.*547G>A | ENSP00000496533.1:n.*547G>A | |
| ENST00000647318.2:c.2782G>A MANE Select | ENSP00000495993.1:p.Val928Ile | |
| ENST00000300589.6:c.2863G>A | ENSP00000300589.2:p.Val955Ile | |
| ENST00000524712.5:c.357G>A | ||
| ENST00000527052.5:c.329G>A | ||
| ENST00000529633.5:c.441G>A | ||
| ENST00000534057.1:c.497G>A | ||
| ENST00000534067.5:c.593G>A | ||
| NM_001293557.1:c.2782G>A | NP_001280486.1:p.Val928Ile | |
| NM_022162.2:c.2863G>A | NP_071445.1:p.Val955Ile | |
| XM_005256084.2:c.2782G>A | XP_005256141.1:p.Val928Ile | |
| XM_006721242.2:c.2698G>A | XP_006721305.1:p.Val900Ile | |
| XM_011523257.1:c.2359G>A | XP_011521559.1:p.Val787Ile | |
| XM_011523258.1:c.2359G>A | XP_011521560.1:p.Val787Ile | |
| XM_011523259.1:c.2197G>A | XP_011521561.1:p.Val733Ile | |
| XR_429725.2:n.2704G>A | ||
| XR_429726.2:n.2620G>A | ||
| XR_933387.1:n.2900G>A | ||
| XM_005256084.4:c.2782G>A | XP_005256141.1:p.Val928Ile | |
| XM_006721242.4:c.2698G>A | XP_006721305.1:p.Val900Ile | |
| XM_011523259.2:c.2197G>A | XP_011521561.1:p.Val733Ile | |
| XM_017023535.1:c.2290G>A | XP_016879024.1:p.Val764Ile | |
| XM_017023536.1:c.2197G>A | XP_016879025.1:p.Val733Ile | |
| XM_017023537.1:c.2197G>A | XP_016879026.1:p.Val733Ile | |
| XM_017023538.1:c.2197G>A | XP_016879027.1:p.Val733Ile | |
| XR_429725.3:n.2657G>A | ||
| XR_429726.3:n.2573G>A | ||
| XR_933387.2:n.2853G>A | ||
| NM_001293557.2:c.2782G>A | NP_001280486.1:p.Val928Ile | |
| NM_001370466.1:c.2782G>A MANE Select | NP_001357395.1:p.Val928Ile | |
| NM_022162.3:c.2863G>A | NP_071445.1:p.Val955Ile | |
| NR_163434.1:n.2994G>A |