Linked Data
ClinVar Variation Id:
333011
dbSNP Id:
rs149078111
ExAC:
2:182468732 G / A
gnomAD v2:
2-182468732-G-A
gnomAD v3:
2-181604005-G-A
gnomAD v4:
2-181604005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181604005G>A , CM000664.2:g.181604005G>A | GRCh38 |
| NC_000002.11:g.182468732G>A , CM000664.1:g.182468732G>A | GRCh37 |
| NC_000002.10:g.182176977G>A | NCBI36 |
| NG_021178.1:g.58103C>T | |
| NG_021178.2:g.58103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-380C>T | ENSP00000508396.1:n.-380C>T | |
| ENST00000410087.8:c.313C>T MANE Select | ENSP00000386725.3:p.Arg105Trp | |
| ENST00000339098.9:c.313C>T | ENSP00000341159.5:p.Arg105Trp | |
| ENST00000374967.6:c.313C>T | ENSP00000364106.2:p.Arg105Trp | |
| ENST00000374969.6:c.313C>T | ENSP00000364108.2:p.Arg105Trp | |
| ENST00000374970.6:c.313C>T | ENSP00000364109.2:p.Arg105Trp | |
| ENST00000409440.7:c.313C>T | ENSP00000387080.3:p.Arg105Trp | |
| ENST00000410087.7:c.313C>T | ENSP00000386725.3:p.Arg105Trp | |
| ENST00000421817.5:c.313C>T | ENSP00000411466.1:p.Arg105Trp | |
| ENST00000452174.5:c.313C>T | ENSP00000409198.1:p.Arg105Trp | |
| ENST00000460319.5:n.232C>T | ||
| ENST00000466715.5:n.193C>T | ||
| ENST00000476070.1:n.212C>T | ||
| ENST00000479558.5:n.311C>T | ||
| ENST00000494398.5:n.313C>T | ||
| ENST00000497337.1:n.454C>T | ||
| NM_001030311.2:c.313C>T | NP_001025482.1:p.Arg105Trp | |
| NM_001030312.2:c.313C>T | NP_001025483.1:p.Arg105Trp | |
| NM_001030313.2:c.313C>T | NP_001025484.1:p.Arg105Trp | |
| NM_001160277.1:c.313C>T | NP_001153749.1:p.Arg105Trp | |
| NM_201548.4:c.313C>T | NP_963842.1:p.Arg105Trp | |
| NR_027689.1:n.414C>T | ||
| NR_027690.1:n.414C>T | ||
| NM_201548.5:c.313C>T MANE Select | NP_963842.1:p.Arg105Trp | |
| NM_001030311.3:c.313C>T | NP_001025482.1:p.Arg105Trp | |
| NM_001030312.3:c.313C>T | NP_001025483.1:p.Arg105Trp | |
| NM_001030313.3:c.313C>T | NP_001025484.1:p.Arg105Trp | |
| NM_001160277.2:c.313C>T | NP_001153749.1:p.Arg105Trp | |
| NR_027689.2:n.412C>T | ||
| NR_027690.2:n.412C>T |