Linked Data
ClinVar Variation Id:
345219
dbSNP Id:
rs767197048
ExAC:
3:43744003 T / C
gnomAD v2:
3-43744003-T-C
gnomAD v3:
3-43702511-T-C
gnomAD v4:
3-43702511-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43702511T>C , CM000665.2:g.43702511T>C | GRCh38 |
| NC_000003.11:g.43744003T>C , CM000665.1:g.43744003T>C | GRCh37 |
| NC_000003.10:g.43719007T>C | NCBI36 |
| NG_007090.3:g.16629T>C | |
| NG_007090.5:g.16642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013894.3:c.*424T>C | ENSP00000013894.2:n.*424T>C | |
| ENST00000454293.2:c.307T>C | ENSP00000412014.2:p.Leu103= | |
| ENST00000458276.7:c.430T>C | ENSP00000390849.3:p.Leu144= | |
| ENST00000642351.1:c.307T>C | ENSP00000494478.1:p.Leu103= | |
| ENST00000643140.1:c.133+3150T>C | ENSP00000495588.1:n.133+3150T>C | |
| ENST00000643477.1:c.*3T>C | ENSP00000496220.1:n.*3T>C | |
| ENST00000643500.1:c.430T>C | ENSP00000494735.1:p.Leu144= | |
| ENST00000643520.1:n.478T>C | ||
| ENST00000644371.2:c.430T>C MANE Select | ENSP00000495778.1:p.Leu144= | |
| ENST00000646378.1:c.*480T>C | ENSP00000495826.1:n.*480T>C | |
| ENST00000646799.1:c.133+3150T>C | ENSP00000494829.1:n.133+3150T>C | |
| ENST00000649763.1:c.430T>C | ENSP00000497701.1:p.Leu144= | |
| ENST00000013894.2:c.*424T>C | ENSP00000013894.2:n.*424T>C | |
| ENST00000456453.5:c.307T>C | ENSP00000391582.1:p.Leu103= | |
| ENST00000458276.6:c.430T>C | ENSP00000390849.2:p.Leu144= | |
| NM_016006.4:c.430T>C | NP_057090.2:p.Leu144= | |
| XM_011533779.1:c.307T>C | XP_011532081.1:p.Leu103= | |
| XM_011533780.1:c.430T>C | XP_011532082.1:p.Leu144= | |
| XR_940447.1:n.487T>C | ||
| NM_001355186.1:c.430T>C | NP_001342115.1:p.Leu144= | |
| NM_001365649.1:c.307T>C | NP_001352578.1:p.Leu103= | |
| NM_001365650.1:c.430T>C | NP_001352579.1:p.Leu144= | |
| NM_016006.5:c.430T>C | NP_057090.2:p.Leu144= | |
| NR_158560.1:n.553T>C | ||
| NM_001355186.2:c.430T>C | NP_001342115.1:p.Leu144= | |
| NM_016006.6:c.430T>C MANE Select | NP_057090.2:p.Leu144= |