Linked Data
ClinVar Variation Id:
12447
dbSNP Id:
rs199474720
ExAC:
1:154140414 T / G
gnomAD v2:
1-154140414-T-G
gnomAD v4:
1-154167938-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154167938T>G , CM000663.2:g.154167938T>G | GRCh38 |
| NC_000001.10:g.154140414T>G , CM000663.1:g.154140414T>G | GRCh37 |
| NC_000001.9:g.152407038T>G | NCBI36 |
| NG_008621.1:g.29196A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611659.5:c.601+2462A>C | ENSP00000480520.1:n.601+2462A>C | |
| ENST00000312970.13:n.631+2462A>C | ||
| ENST00000323144.12:c.664+2462A>C | ENSP00000357518.4:n.664+2462A>C | |
| ENST00000328159.9:c.743+1367A>C | ENSP00000357520.1:n.743+1367A>C | |
| ENST00000341372.8:c.*380+2462A>C | ENSP00000339378.4:n.*380+2462A>C | |
| ENST00000341485.10:c.664+2462A>C | ENSP00000341653.6:n.664+2462A>C | |
| ENST00000368530.7:c.857A>C | ENSP00000357516.3:p.Ter286Ser | |
| ENST00000368533.8:c.664+2462A>C | ENSP00000357521.3:n.664+2462A>C | |
| ENST00000651641.1:c.857A>C MANE Select | ENSP00000498577.1:p.Ter286Ser | |
| ENST00000651731.1:c.223+1367A>C | ||
| ENST00000651873.1:c.685+2462A>C | ||
| ENST00000271850.11:c.775+2462A>C | ENSP00000271850.7:n.775+2462A>C | |
| ENST00000302206.9:c.394+2462A>C | ENSP00000307712.5:n.394+2462A>C | |
| ENST00000312970.12:n.554+2462A>C | ||
| ENST00000323144.11:c.664+2462A>C | ENSP00000357518.4:n.664+2462A>C | |
| ENST00000328159.8:c.743+1367A>C | ENSP00000357520.1:n.743+1367A>C | |
| ENST00000330188.13:c.664+2462A>C | ENSP00000339035.7:n.664+2462A>C | |
| ENST00000341372.7:c.589+2462A>C | ENSP00000339378.3:n.589+2462A>C | |
| ENST00000341485.9:c.616+2462A>C | ENSP00000341653.5:n.616+2462A>C | |
| ENST00000368530.6:c.857A>C | ENSP00000357516.2:p.Ter286Ser | |
| ENST00000368531.6:c.664+2462A>C | ENSP00000357517.2:n.664+2462A>C | |
| ENST00000368533.7:c.664+2462A>C | ENSP00000357521.3:n.664+2462A>C | |
| ENST00000368545.7:n.782+2462A>C | ||
| ENST00000469717.5:n.2678+2462A>C | ||
| ENST00000509409.5:c.*380+2462A>C | ENSP00000426521.1:n.*380+2462A>C | |
| ENST00000513769.5:n.349+2462A>C | ||
| ENST00000611659.4:c.601+2462A>C | ENSP00000480520.1:n.601+2462A>C | |
| NM_001043351.1:c.664+2462A>C | NP_001036816.1:n.664+2462A>C | |
| NM_001043352.1:c.664+2462A>C | NP_001036817.1:n.664+2462A>C | |
| NM_001043353.1:c.664+2462A>C | NP_001036818.1:n.664+2462A>C | |
| NM_001278188.1:c.466+2462A>C | NP_001265117.1:n.466+2462A>C | |
| NM_001278189.1:c.743+1367A>C | NP_001265118.1:n.743+1367A>C | |
| NM_001278190.1:c.601+2462A>C | NP_001265119.1:n.601+2462A>C | |
| NM_001278191.1:c.394+2462A>C | NP_001265120.1:n.394+2462A>C | |
| NM_152263.3:c.857A>C | NP_689476.2:p.Ter286Ser | |
| NM_153649.3:c.664+2462A>C | NP_705935.1:n.664+2462A>C | |
| NR_103461.1:n.790+2462A>C | ||
| XM_006711515.1:c.775+2462A>C | XP_006711578.1:n.775+2462A>C | |
| XM_006711517.1:c.857A>C | XP_006711580.1:p.Ter286Ser | |
| XM_006711518.1:c.854+1367A>C | XP_006711581.1:n.854+1367A>C | |
| XM_006711519.1:c.775+2462A>C | XP_006711582.1:n.775+2462A>C | |
| XM_006711520.1:c.775+2462A>C | XP_006711583.1:n.775+2462A>C | |
| XM_006711521.1:c.775+2462A>C | XP_006711584.1:n.775+2462A>C | |
| XM_006711522.2:c.746A>C | XP_006711585.1:p.Ter249Ser | |
| XM_011509950.1:c.854+1367A>C | XP_011508252.1:n.854+1367A>C | |
| XM_011509951.1:c.854+1367A>C | XP_011508253.1:n.854+1367A>C | |
| XM_011509952.1:c.743+1367A>C | XP_011508254.1:n.743+1367A>C | |
| XM_011509953.1:c.743+1367A>C | XP_011508255.1:n.743+1367A>C | |
| NM_001349679.1:c.743+1367A>C | NP_001336608.1:n.743+1367A>C | |
| NM_001364679.1:c.775+2462A>C | NP_001351608.1:n.775+2462A>C | |
| NM_001364680.1:c.775+2462A>C | NP_001351609.1:n.775+2462A>C | |
| NM_001364681.1:c.775+2462A>C | NP_001351610.1:n.775+2462A>C | |
| NM_001364682.1:c.857A>C | NP_001351611.1:p.Ter286Ser | |
| NM_001364683.1:c.746A>C | NP_001351612.1:p.Ter249Ser | |
| NM_152263.4:c.857A>C MANE Select | NP_689476.2:p.Ter286Ser | |
| NM_001043351.2:c.664+2462A>C | NP_001036816.1:n.664+2462A>C | |
| NM_001043352.2:c.664+2462A>C | NP_001036817.1:n.664+2462A>C | |
| NM_001043353.2:c.664+2462A>C | NP_001036818.1:n.664+2462A>C | |
| NM_001278188.2:c.466+2462A>C | NP_001265117.1:n.466+2462A>C | |
| NM_001278189.2:c.743+1367A>C | NP_001265118.1:n.743+1367A>C | |
| NM_001278191.2:c.394+2462A>C | NP_001265120.1:n.394+2462A>C | |
| NM_001349679.2:c.743+1367A>C | NP_001336608.1:n.743+1367A>C | |
| NM_001364679.2:c.775+2462A>C | NP_001351608.1:n.775+2462A>C | |
| NM_001364680.2:c.775+2462A>C | NP_001351609.1:n.775+2462A>C | |
| NM_001364681.2:c.775+2462A>C | NP_001351610.1:n.775+2462A>C | |
| NM_153649.4:c.664+2462A>C | NP_705935.1:n.664+2462A>C | |
| NR_103461.2:n.759+2462A>C | ||
| NM_001278190.2:c.601+2462A>C | NP_001265119.1:n.601+2462A>C |