Linked Data
ClinVar Variation Id:
295647
dbSNP Id:
rs368216093
ExAC:
1:220345270 A / C
gnomAD v2:
1-220345270-A-C
gnomAD v3:
1-220171928-A-C
gnomAD v4:
1-220171928-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220171928A>C , CM000663.2:g.220171928A>C | GRCh38 |
| NC_000001.10:g.220345270A>C , CM000663.1:g.220345270A>C | GRCh37 |
| NC_000001.9:g.218411893A>C | NCBI36 |
| NG_015837.1:g.105574T>G | |
| NG_015837.2:g.105574T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.2538T>G | ENSP00000509457.1:p.Ser846= | |
| ENST00000685664.1:c.2538T>G | ENSP00000509121.1:p.Ser846= | |
| ENST00000686381.1:c.2274T>G | ENSP00000509555.1:p.Ser758= | |
| ENST00000687065.1:c.2274T>G | ENSP00000510408.1:p.Ser758= | |
| ENST00000687394.1:n.2644T>G | ||
| ENST00000687647.1:c.2274T>G | ENSP00000509205.1:p.Ser758= | |
| ENST00000688035.1:n.2953T>G | ||
| ENST00000690315.1:c.2439T>G | ENSP00000509834.1:p.Ser813= | |
| ENST00000690373.1:n.2877T>G | ||
| ENST00000690824.1:c.2538T>G | ENSP00000510709.1:p.Ser846= | |
| ENST00000691661.1:c.2550T>G | ENSP00000510185.1:p.Ser850= | |
| ENST00000691862.1:c.2436T>G | ENSP00000509291.1:p.Ser812= | |
| ENST00000692813.1:c.2538T>G | ENSP00000509080.1:p.Ser846= | |
| ENST00000692972.1:c.2613T>G | ENSP00000510753.1:p.Ser871= | |
| ENST00000693602.1:n.2631T>G | ||
| ENST00000358951.7:c.2538T>G MANE Select | ENSP00000351832.2:p.Ser846= | |
| ENST00000358951.6:c.2538T>G | ENSP00000351832.2:p.Ser846= | |
| NM_012414.3:c.2538T>G | NP_036546.2:p.Ser846= | |
| NM_012414.4:c.2538T>G MANE Select | NP_036546.2:p.Ser846= |