Linked Data
ClinVar Variation Id:
333005
dbSNP Id:
rs141656965
ExAC:
2:182403857 A / G
gnomAD v2:
2-182403857-A-G
gnomAD v3:
2-181539130-A-G
gnomAD v4:
2-181539130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181539130A>G , CM000664.2:g.181539130A>G | GRCh38 |
| NC_000002.11:g.182403857A>G , CM000664.1:g.182403857A>G | GRCh37 |
| NC_000002.10:g.182112102A>G | NCBI36 |
| NG_021178.1:g.122978T>C | |
| NG_050623.1:g.87239A>G | |
| NG_021178.2:g.122978T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.744T>C | ENSP00000508396.1:p.Asp248= | |
| ENST00000410087.8:c.1500T>C MANE Select | ENSP00000386725.3:p.Asp500= | |
| ENST00000339098.9:c.1578T>C | ENSP00000341159.5:p.Asp526= | |
| ENST00000374967.6:c.1436T>C | ENSP00000364106.2:n.1436T>C | |
| ENST00000374969.6:c.1161T>C | ENSP00000364108.2:p.Asp387= | |
| ENST00000374970.6:c.1293T>C | ENSP00000364109.2:p.Asp431= | |
| ENST00000409440.7:c.1446T>C | ENSP00000387080.3:p.Asp482= | |
| ENST00000410087.7:c.1500T>C | ENSP00000386725.3:p.Asp500= | |
| ENST00000421817.5:c.*756T>C | ENSP00000411466.1:n.*756T>C | |
| ENST00000452174.5:c.1304T>C | ENSP00000409198.1:n.1304T>C | |
| ENST00000494398.5:n.2292T>C | ||
| NM_001030311.2:c.1578T>C | NP_001025482.1:p.Asp526= | |
| NM_001030312.2:c.1161T>C | NP_001025483.1:p.Asp387= | |
| NM_001030313.2:c.1293T>C | NP_001025484.1:p.Asp431= | |
| NM_001160277.1:c.1446T>C | NP_001153749.1:p.Asp482= | |
| NM_201548.4:c.1500T>C | NP_963842.1:p.Asp500= | |
| NR_027689.1:n.1405T>C | ||
| NR_027690.1:n.1537T>C | ||
| NM_201548.5:c.1500T>C MANE Select | NP_963842.1:p.Asp500= | |
| NM_001030311.3:c.1578T>C | NP_001025482.1:p.Asp526= | |
| NM_001030312.3:c.1161T>C | NP_001025483.1:p.Asp387= | |
| NM_001030313.3:c.1293T>C | NP_001025484.1:p.Asp431= | |
| NM_001160277.2:c.1446T>C | NP_001153749.1:p.Asp482= | |
| NR_027689.2:n.1403T>C | ||
| NR_027690.2:n.1535T>C |