Linked Data
dbSNP Id:
rs12105918
gnomAD v2:
2-145208193-T-C
gnomAD v3:
2-144450626-T-C
gnomAD v4:
2-144450626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144450626T>C , CM000664.2:g.144450626T>C | GRCh38 |
| NC_000002.11:g.145208193T>C , CM000664.1:g.145208193T>C | GRCh37 |
| NC_000002.10:g.144924663T>C | NCBI36 |
| NG_016431.1:g.74766A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000637591.2:n.222+19793A>G | ||
| ENST00000689298.1:c.103-20600A>G | ENSP00000508434.1:n.103-20600A>G | |
| ENST00000440875.6:c.-633+4426A>G | ENSP00000475553.3:n.-633+4426A>G | |
| ENST00000627532.3:c.74-20600A>G MANE Select | ENSP00000487174.1:n.74-20600A>G | |
| ENST00000636026.2:c.74-20600A>G | ENSP00000490776.1:n.74-20600A>G | |
| ENST00000636179.1:n.43-20600A>G | ||
| ENST00000636471.1:c.74-20600A>G | ENSP00000490317.1:n.74-20600A>G | |
| ENST00000636732.2:c.74-20600A>G | ENSP00000490175.1:n.74-20600A>G | |
| ENST00000636820.1:n.174-20600A>G | ||
| ENST00000637045.1:c.-264+4426A>G | ENSP00000490141.1:n.-264+4426A>G | |
| ENST00000637267.2:c.74-20600A>G | ENSP00000490293.2:n.74-20600A>G | |
| ENST00000637304.1:c.-263-20600A>G | ENSP00000490872.1:n.-263-20600A>G | |
| ENST00000638128.1:c.-632-20600A>G | ENSP00000490934.1:n.-632-20600A>G | |
| ENST00000675069.1:c.-133-51776A>G | ENSP00000502467.1:n.-133-51776A>G | |
| ENST00000303660.8:c.74-20600A>G | ENSP00000302501.4:n.74-20600A>G | |
| ENST00000392861.6:c.158-20600A>G | ENSP00000376601.3:n.158-20600A>G | |
| ENST00000409211.5:c.74-20600A>G | ENSP00000387256.2:n.74-20600A>G | |
| ENST00000409487.7:c.74-20600A>G | ENSP00000386854.2:n.74-20600A>G | |
| ENST00000419938.5:c.74-20600A>G | ENSP00000394777.2:n.74-20600A>G | |
| ENST00000427902.5:c.161-20600A>G | ENSP00000395496.2:n.161-20600A>G | |
| ENST00000431672.4:c.74-20600A>G | ENSP00000475267.2:n.74-20600A>G | |
| ENST00000434448.5:c.*5-20600A>G | ENSP00000487261.1:n.*5-20600A>G | |
| ENST00000435831.5:c.74-20600A>G | ENSP00000400993.1:n.74-20600A>G | |
| ENST00000440875.5:c.59-20600A>G | ENSP00000475553.2:n.59-20600A>G | |
| ENST00000444559.5:c.74-20600A>G | ENSP00000399451.1:n.74-20600A>G | |
| ENST00000453352.5:n.381-20600A>G | ||
| ENST00000461784.3:n.281-20600A>G | ||
| ENST00000465308.5:c.74-20600A>G | ENSP00000487476.1:n.74-20600A>G | |
| ENST00000472146.5:n.324-20600A>G | ||
| ENST00000476394.5:n.178-20600A>G | ||
| ENST00000479735.1:n.305-20600A>G | ||
| ENST00000539609.7:c.74-20600A>G | ENSP00000443792.2:n.74-20600A>G | |
| ENST00000558170.6:c.74-20600A>G | ENSP00000454157.1:n.74-20600A>G | |
| ENST00000627532.2:c.74-20600A>G | ENSP00000487174.1:n.74-20600A>G | |
| ENST00000630572.2:c.74-20600A>G | ENSP00000486346.1:n.74-20600A>G | |
| NM_001171653.1:c.74-20600A>G | NP_001165124.1:n.74-20600A>G | |
| NM_014795.3:c.74-20600A>G | NP_055610.1:n.74-20600A>G | |
| XM_006712881.2:c.74-20600A>G | XP_006712944.1:n.74-20600A>G | |
| XM_006712882.2:c.74-20600A>G | XP_006712945.1:n.74-20600A>G | |
| XM_011512232.1:c.53-20600A>G | XP_011510534.1:n.53-20600A>G | |
| XR_923405.1:n.6052T>C | ||
| XR_923406.1:n.5928T>C | ||
| XR_923407.1:n.5891T>C | ||
| XR_923408.1:n.5930T>C | ||
| XR_923409.1:n.5383T>C | ||
| NM_014795.4:c.74-20600A>G MANE Select | NP_055610.1:n.74-20600A>G | |
| NM_001171653.2:c.74-20600A>G | NP_001165124.1:n.74-20600A>G |