Linked Data
ClinVar Variation Id:
1781507
ClinVar RCV Id:
RCV002414924
dbSNP Id:
rs1158758440
gnomAD v4:
2-214745109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745109T>C , CM000664.2:g.214745109T>C | GRCh38 |
| NC_000002.11:g.215609833T>C , CM000664.1:g.215609833T>C | GRCh37 |
| NC_000002.10:g.215318078T>C | NCBI36 |
| NG_012047.2:g.69596A>G | |
| NG_012047.3:g.69603A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1861A>G MANE Select | ENSP00000260947.4:p.Met621Val | |
| ENST00000421162.2:c.508A>G | ENSP00000392245.2:p.Met170Val | |
| ENST00000613192.2:c.159-14601A>G | ENSP00000483275.2:n.159-14601A>G | |
| ENST00000613374.5:c.451A>G | ENSP00000484464.1:p.Met151Val | |
| ENST00000613706.5:c.1453A>G | ENSP00000484976.2:p.Met485Val | |
| ENST00000617164.5:c.1804A>G | ENSP00000480470.1:p.Met602Val | |
| ENST00000619009.5:c.365-14601A>G | ENSP00000482293.1:n.365-14601A>G | |
| ENST00000650978.1:c.3236A>G | ||
| ENST00000260947.8:c.1861A>G | ENSP00000260947.4:p.Met621Val | |
| ENST00000421162.1:c.508A>G | ENSP00000392245.1:p.Met170Val | |
| ENST00000455743.5:c.*1481A>G | ENSP00000412186.1:n.*1481A>G | |
| ENST00000613192.1:c.74-14601A>G | ENSP00000483275.1:n.74-14601A>G | |
| ENST00000613374.4:c.451A>G | ENSP00000484464.1:p.Met151Val | |
| ENST00000613706.4:c.508A>G | ENSP00000484976.1:p.Met170Val | |
| ENST00000617164.4:c.1804A>G | ENSP00000480470.1:p.Met602Val | |
| ENST00000619009.4:c.365-14601A>G | ENSP00000482293.1:n.365-14601A>G | |
| ENST00000620057.4:c.*527A>G | ENSP00000481988.1:n.*527A>G | |
| NM_000465.3:c.1861A>G | NP_000456.2:p.Met621Val | |
| NM_001282543.1:c.1804A>G | NP_001269472.1:p.Met602Val | |
| NM_001282545.1:c.508A>G | NP_001269474.1:p.Met170Val | |
| NM_001282548.1:c.451A>G | NP_001269477.1:p.Met151Val | |
| NM_001282549.1:c.365-14601A>G | NP_001269478.1:n.365-14601A>G | |
| NR_104212.1:n.1854A>G | ||
| NR_104215.1:n.1797A>G | ||
| NR_104216.1:n.1053A>G | ||
| XM_011511567.1:c.1807A>G | XP_011509869.1:p.Met603Val | |
| XM_011511568.1:c.1861A>G | XP_011509870.1:p.Met621Val | |
| XM_017004613.1:c.1960A>G | XP_016860102.1:p.Met654Val | |
| XM_017004614.1:c.1960A>G | XP_016860103.1:p.Met654Val | |
| XR_002959322.1:n.2051A>G | ||
| NM_000465.4:c.1861A>G MANE Select | NP_000456.2:p.Met621Val | |
| NM_001282543.2:c.1804A>G | NP_001269472.1:p.Met602Val | |
| NM_001282545.2:c.508A>G | NP_001269474.1:p.Met170Val | |
| NM_001282548.2:c.451A>G | NP_001269477.1:p.Met151Val | |
| NM_001282549.2:c.365-14601A>G | NP_001269478.1:n.365-14601A>G | |
| NR_104212.2:n.1826A>G | ||
| NR_104215.2:n.1769A>G | ||
| NR_104216.2:n.1025A>G |