Linked Data
ClinVar Variation Id:
137534
dbSNP Id:
rs143687204
ExAC:
5:140073790 T / C
gnomAD v2:
5-140073790-T-C
gnomAD v3:
5-140694205-T-C
gnomAD v4:
5-140694205-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140694205T>C , CM000667.2:g.140694205T>C | GRCh38 |
| NC_000005.9:g.140073790T>C , CM000667.1:g.140073790T>C | GRCh37 |
| NC_000005.8:g.140053974T>C | NCBI36 |
| NG_021415.1:g.7773T>C | |
| NG_032158.1:g.2182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.324T>C MANE Select | ENSP00000230771.3:p.Tyr108= | |
| ENST00000503873.6:c.303+151T>C | ENSP00000424516.2:n.303+151T>C | |
| ENST00000509299.6:c.114T>C | ENSP00000425695.2:p.Tyr38= | |
| ENST00000520095.6:c.*103+151T>C | ENSP00000429220.1:n.*103+151T>C | |
| ENST00000642452.1:c.290T>C | ||
| ENST00000642752.1:c.324T>C | ENSP00000493630.1:p.Tyr108= | |
| ENST00000642970.1:c.114T>C | ENSP00000496011.1:p.Tyr38= | |
| ENST00000643996.1:c.114T>C | ENSP00000495350.1:p.Tyr38= | |
| ENST00000645065.1:c.342T>C | ENSP00000493571.1:p.Tyr114= | |
| ENST00000645749.1:c.324T>C | ENSP00000494296.1:p.Tyr108= | |
| ENST00000646468.1:c.342T>C | ENSP00000494965.1:p.Tyr114= | |
| ENST00000647484.1:c.114T>C | ENSP00000494140.1:p.Tyr38= | |
| ENST00000230771.7:c.324T>C | ENSP00000230771.3:p.Tyr108= | |
| ENST00000448069.2:c.109-1533T>C | ENSP00000407105.2:n.109-1533T>C | |
| ENST00000502303.5:n.407T>C | ||
| ENST00000503873.5:c.342T>C | ENSP00000424516.1:p.Tyr114= | |
| ENST00000508522.5:c.249T>C | ENSP00000423616.1:p.Tyr83= | |
| ENST00000509299.5:c.342T>C | ENSP00000425695.1:p.Tyr114= | |
| ENST00000510104.5:c.*124T>C | ENSP00000423530.1:n.*124T>C | |
| ENST00000511913.5:n.500T>C | ||
| ENST00000513688.1:n.331T>C | ||
| ENST00000520095.5:c.*103+151T>C | ENSP00000429220.1:n.*103+151T>C | |
| NM_001278731.1:c.249T>C | NP_001265660.1:p.Tyr83= | |
| NM_001278732.1:c.93+151T>C | NP_001265661.1:n.93+151T>C | |
| NM_012208.3:c.324T>C | NP_036340.1:p.Tyr108= | |
| XM_011537619.1:c.342T>C | XP_011535921.1:p.Tyr114= | |
| XM_011537620.1:c.342T>C | XP_011535922.1:p.Tyr114= | |
| NM_001363535.1:c.342T>C | NP_001350464.1:p.Tyr114= | |
| NM_001363536.1:c.114T>C | NP_001350465.1:p.Tyr38= | |
| XM_017009288.1:c.114T>C | XP_016864777.1:p.Tyr38= | |
| XM_017009289.1:c.114T>C | XP_016864778.1:p.Tyr38= | |
| XM_017009290.2:c.-411T>C | XP_016864779.1:n.-411T>C | |
| XM_017009291.1:c.-411T>C | XP_016864780.1:n.-411T>C | |
| XM_017009292.1:c.-411T>C | XP_016864781.1:n.-411T>C | |
| NM_012208.4:c.324T>C MANE Select | NP_036340.1:p.Tyr108= | |
| NM_001278731.2:c.249T>C | NP_001265660.1:p.Tyr83= | |
| NM_001278732.2:c.93+151T>C | NP_001265661.1:n.93+151T>C | |
| NM_001363535.2:c.342T>C | NP_001350464.1:p.Tyr114= | |
| NM_001363536.2:c.114T>C | NP_001350465.1:p.Tyr38= |