Linked Data
ClinVar Variation Id:
2439920
ClinVar RCV Id:
RCV003144820
dbSNP Id:
rs1341426481
gnomAD v2:
2-182423305-A-C
gnomAD v4:
2-181558578-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558578A>C , CM000664.2:g.181558578A>C | GRCh38 |
| NC_000002.11:g.182423305A>C , CM000664.1:g.182423305A>C | GRCh37 |
| NC_000002.10:g.182131550A>C | NCBI36 |
| NG_021178.1:g.103530T>G | |
| NG_021178.2:g.103530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.52T>G | ENSP00000508396.1:p.Leu18Val | |
| ENST00000410087.8:c.808T>G MANE Select | ENSP00000386725.3:p.Leu270Val | |
| ENST00000339098.9:c.886T>G | ENSP00000341159.5:p.Leu296Val | |
| ENST00000374967.6:c.744T>G | ENSP00000364106.2:n.744T>G | |
| ENST00000374969.6:c.482-8870T>G | ENSP00000364108.2:n.482-8870T>G | |
| ENST00000374970.6:c.614-8870T>G | ENSP00000364109.2:n.614-8870T>G | |
| ENST00000409440.7:c.754T>G | ENSP00000387080.3:p.Leu252Val | |
| ENST00000410087.7:c.808T>G | ENSP00000386725.3:p.Leu270Val | |
| ENST00000421817.5:c.*90T>G | ENSP00000411466.1:n.*90T>G | |
| ENST00000452174.5:c.612T>G | ENSP00000409198.1:n.612T>G | |
| ENST00000479558.5:n.806T>G | ||
| ENST00000494398.5:n.808T>G | ||
| NM_001030311.2:c.886T>G | NP_001025482.1:p.Leu296Val | |
| NM_001030312.2:c.482-8870T>G | NP_001025483.1:n.482-8870T>G | |
| NM_001030313.2:c.614-8870T>G | NP_001025484.1:n.614-8870T>G | |
| NM_001160277.1:c.754T>G | NP_001153749.1:p.Leu252Val | |
| NM_201548.4:c.808T>G | NP_963842.1:p.Leu270Val | |
| NR_027689.1:n.713T>G | ||
| NR_027690.1:n.845T>G | ||
| NM_201548.5:c.808T>G MANE Select | NP_963842.1:p.Leu270Val | |
| NM_001030311.3:c.886T>G | NP_001025482.1:p.Leu296Val | |
| NM_001030312.3:c.482-8870T>G | NP_001025483.1:n.482-8870T>G | |
| NM_001030313.3:c.614-8870T>G | NP_001025484.1:n.614-8870T>G | |
| NM_001160277.2:c.754T>G | NP_001153749.1:p.Leu252Val | |
| NR_027689.2:n.711T>G | ||
| NR_027690.2:n.843T>G |