Linked Data
ClinVar Variation Id:
282127
dbSNP Id:
rs369930821
ExAC:
2:238285960 A / G
gnomAD v2:
2-238285960-A-G
gnomAD v3:
2-237377317-A-G
gnomAD v4:
2-237377317-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237377317A>G , CM000664.2:g.237377317A>G | GRCh38 |
| NC_000002.11:g.238285960A>G , CM000664.1:g.238285960A>G | GRCh37 |
| NC_000002.10:g.237950699A>G | NCBI36 |
| NG_008676.1:g.41891T>C , LRG_473:g.41891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.1907T>C | ENSP00000315873.4:p.Phe636Ser | |
| ENST00000295550.9:c.2525T>C MANE Select | ENSP00000295550.4:p.Phe842Ser | |
| ENST00000295550.8:c.2525T>C | ENSP00000295550.4:p.Phe842Ser | |
| ENST00000347401.7:c.704T>C | ENSP00000315609.4:p.Phe235Ser | |
| ENST00000353578.8:c.1907T>C | ENSP00000315873.4:p.Phe636Ser | |
| ENST00000392003.6:c.1304T>C | ENSP00000375860.2:p.Phe435Ser | |
| ENST00000392004.7:c.1907T>C | ENSP00000375861.3:p.Phe636Ser | |
| ENST00000409809.5:c.1907T>C | ENSP00000386844.1:p.Phe636Ser | |
| ENST00000433762.1:c.1925T>C | ENSP00000389539.1:p.Phe642Ser | |
| ENST00000472056.5:c.704T>C | ENSP00000418285.1:p.Phe235Ser | |
| NM_004369.3:c.2525T>C , LRG_473t1:c.2525T>C | NP_004360.2:p.Phe842Ser | |
| NM_057164.4:c.1304T>C | NP_476505.3:p.Phe435Ser | |
| NM_057165.4:c.1907T>C | NP_476506.3:p.Phe636Ser | |
| NM_057166.4:c.704T>C | NP_476507.3:p.Phe235Ser | |
| NM_057167.3:c.1907T>C | NP_476508.2:p.Phe636Ser | |
| XM_005246065.1:c.1925T>C | XP_005246122.1:p.Phe642Ser | |
| XM_005246066.1:c.1304T>C | XP_005246123.1:p.Phe435Ser | |
| XM_006712253.1:c.2525T>C | XP_006712316.1:p.Phe842Ser | |
| XM_011510574.1:c.2525T>C | XP_011508876.1:p.Phe842Ser | |
| XM_011510575.1:c.119T>C | XP_011508877.1:p.Phe40Ser | |
| XM_017003304.1:c.119T>C | XP_016858793.1:p.Phe40Ser | |
| XM_024452684.1:c.1304T>C | XP_024308452.1:p.Phe435Ser | |
| NM_004369.4:c.2525T>C MANE Select | NP_004360.2:p.Phe842Ser | |
| NM_057164.5:c.1304T>C | NP_476505.3:p.Phe435Ser | |
| NM_057165.5:c.1907T>C | NP_476506.3:p.Phe636Ser | |
| NM_057166.5:c.704T>C | NP_476507.3:p.Phe235Ser | |
| NM_057167.4:c.1907T>C | NP_476508.2:p.Phe636Ser |