Linked Data
ClinVar Variation Id:
46648
ClinVar RCV Id:
RCV000039918
RCV000226134
RCV000290608
RCV000304112
RCV000345615
RCV000349032
RCV000402296
RCV000769068
dbSNP Id:
rs149131555
ExAC:
2:179594027 C / T
gnomAD v2:
2-179594027-C-T
gnomAD v3:
2-178729300-C-T
gnomAD v4:
2-178729300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178729300C>T , CM000664.2:g.178729300C>T | GRCh38 |
| NC_000002.11:g.179594027C>T , CM000664.1:g.179594027C>T | GRCh37 |
| NC_000002.10:g.179302272C>T | NCBI36 |
| NG_011618.3:g.106503G>A , LRG_391:g.106503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.15124G>A | ENSP00000343764.6:p.Val5042Ile | |
| ENST00000342175.11:c.13858+8782G>A | ENSP00000340554.6:n.13858+8782G>A | |
| ENST00000359218.10:c.13657+8782G>A | ENSP00000352154.5:n.13657+8782G>A | |
| ENST00000342175.10:c.13858+8782G>A | ENSP00000340554.6:n.13858+8782G>A | |
| ENST00000342992.10:c.15124G>A | ENSP00000343764.6:p.Val5042Ile | |
| ENST00000359218.9:c.13657+8782G>A | ENSP00000352154.5:n.13657+8782G>A | |
| ENST00000460472.6:c.13282+8782G>A | ENSP00000434586.1:n.13282+8782G>A | |
| ENST00000589042.5:c.18856G>A MANE Select | ENSP00000467141.1:p.Val6286Ile | |
| ENST00000591111.5:c.17905G>A | ENSP00000465570.1:p.Val5969Ile | |
| ENST00000615779.4:c.17905G>A | ENSP00000483597.1:p.Val5969Ile | |
| NM_001256850.1:c.17905G>A | NP_001243779.1:p.Val5969Ile | |
| NM_001267550.2:c.18856G>A MANE Select | NP_001254479.2:p.Val6286Ile | |
| NM_003319.4:c.13282+8782G>A | NP_003310.4:n.13282+8782G>A | |
| NM_133378.4:c.15124G>A | NP_596869.4:p.Val5042Ile | |
| NM_133432.3:c.13657+8782G>A | NP_597676.3:n.13657+8782G>A | |
| NM_133437.4:c.13858+8782G>A | NP_597681.4:n.13858+8782G>A | |
| XM_011511729.1:c.17953G>A | XP_011510031.1:p.Val5985Ile | |
| XM_011511730.1:c.13468+8782G>A | XP_011510032.1:n.13468+8782G>A | |
| XM_011511731.1:c.13327+8782G>A | XP_011510033.1:n.13327+8782G>A | |
| XM_017004819.1:c.17908G>A | XP_016860308.1:p.Val5970Ile | |
| XM_017004820.1:c.15127G>A | XP_016860309.1:p.Val5043Ile | |
| XM_017004821.1:c.15124G>A | XP_016860310.1:p.Val5042Ile | |
| XM_017004822.1:c.17908G>A | XP_016860311.1:p.Val5970Ile | |
| XM_017004823.1:c.13423+8782G>A | XP_016860312.1:n.13423+8782G>A | |
| XM_024453094.1:c.17908G>A | XP_024308862.1:p.Val5970Ile | |
| XM_024453095.1:c.17908G>A | XP_024308863.1:p.Val5970Ile | |
| XM_024453096.1:c.17908G>A | XP_024308864.1:p.Val5970Ile | |
| XM_024453097.1:c.17908G>A | XP_024308865.1:p.Val5970Ile | |
| XM_024453098.1:c.17908G>A | XP_024308866.1:p.Val5970Ile | |
| XM_024453099.1:c.13423+8782G>A | XP_024308867.1:n.13423+8782G>A |