Linked Data
ClinVar Variation Id:
284789
dbSNP Id:
rs114549120
ExAC:
2:238296323 A / G
gnomAD v2:
2-238296323-A-G
gnomAD v3:
2-237387680-A-G
gnomAD v4:
2-237387680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237387680A>G , CM000664.2:g.237387680A>G | GRCh38 |
| NC_000002.11:g.238296323A>G , CM000664.1:g.238296323A>G | GRCh37 |
| NC_000002.10:g.237961062A>G | NCBI36 |
| NG_008676.1:g.31528T>C , LRG_473:g.31528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.596T>C | ENSP00000315873.4:p.Phe199Ser | |
| ENST00000682405.1:n.86-6181T>C | ||
| ENST00000295550.9:c.1214T>C MANE Select | ENSP00000295550.4:p.Phe405Ser | |
| ENST00000295550.8:c.1214T>C | ENSP00000295550.4:p.Phe405Ser | |
| ENST00000347401.7:c.92-6181T>C | ENSP00000315609.4:n.92-6181T>C | |
| ENST00000353578.8:c.596T>C | ENSP00000315873.4:p.Phe199Ser | |
| ENST00000392003.6:c.92-6181T>C | ENSP00000375860.2:n.92-6181T>C | |
| ENST00000392004.7:c.596T>C | ENSP00000375861.3:p.Phe199Ser | |
| ENST00000409809.5:c.596T>C | ENSP00000386844.1:p.Phe199Ser | |
| ENST00000433762.1:c.1214T>C | ENSP00000389539.1:p.Phe405Ser | |
| ENST00000472056.5:c.92-6181T>C | ENSP00000418285.1:n.92-6181T>C | |
| ENST00000491233.1:c.398T>C | ENSP00000460277.1:p.Phe133Ser | |
| NM_004369.3:c.1214T>C , LRG_473t1:c.1214T>C | NP_004360.2:p.Phe405Ser | |
| NM_057164.4:c.92-6181T>C | NP_476505.3:n.92-6181T>C | |
| NM_057165.4:c.596T>C | NP_476506.3:p.Phe199Ser | |
| NM_057166.4:c.92-6181T>C | NP_476507.3:n.92-6181T>C | |
| NM_057167.3:c.596T>C | NP_476508.2:p.Phe199Ser | |
| XM_005246065.1:c.1214T>C | XP_005246122.1:p.Phe405Ser | |
| XM_005246066.1:c.92-6181T>C | XP_005246123.1:n.92-6181T>C | |
| XM_006712253.1:c.1214T>C | XP_006712316.1:p.Phe405Ser | |
| XM_011510574.1:c.1214T>C | XP_011508876.1:p.Phe405Ser | |
| XM_011510575.1:c.91+9047T>C | XP_011508877.1:n.91+9047T>C | |
| XM_017003304.1:c.91+9047T>C | XP_016858793.1:n.91+9047T>C | |
| XM_024452684.1:c.92-6181T>C | XP_024308452.1:n.92-6181T>C | |
| NM_004369.4:c.1214T>C MANE Select | NP_004360.2:p.Phe405Ser | |
| NM_057164.5:c.92-6181T>C | NP_476505.3:n.92-6181T>C | |
| NM_057165.5:c.596T>C | NP_476506.3:p.Phe199Ser | |
| NM_057166.5:c.92-6181T>C | NP_476507.3:n.92-6181T>C | |
| NM_057167.4:c.596T>C | NP_476508.2:p.Phe199Ser |