Linked Data
ClinVar Variation Id:
2461207
ClinVar RCV Id:
RCV003179739
dbSNP Id:
rs1215471943
gnomAD v2:
13-102379103-T-C
gnomAD v3:
13-101726753-T-C
gnomAD v4:
13-101726753-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726753T>C , CM000675.2:g.101726753T>C | GRCh38 |
| NC_000013.10:g.102379103T>C , CM000675.1:g.102379103T>C | GRCh37 |
| NC_000013.9:g.101177104T>C | NCBI36 |
| NG_008317.1:g.680022A>G | |
| NG_008317.2:g.680022A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.481A>G | ENSP00000365301.3:p.Ile161Val | |
| ENST00000418923.3:c.364A>G | ENSP00000516414.1:p.Ile122Val | |
| ENST00000706491.1:c.*70A>G | ENSP00000516413.1:n.*70A>G | |
| ENST00000706492.1:c.*285A>G | ENSP00000516415.1:n.*285A>G | |
| ENST00000706493.1:c.*380A>G | ENSP00000516416.1:n.*380A>G | |
| ENST00000706494.1:c.214A>G | ENSP00000516417.1:p.Ile72Val | |
| ENST00000376143.5:c.466A>G MANE Select | ENSP00000365313.4:p.Ile156Val | |
| ENST00000376131.8:c.481A>G | ENSP00000365301.3:p.Ile161Val | |
| ENST00000376143.4:c.466A>G | ENSP00000365313.4:p.Ile156Val | |
| NM_004115.3:c.466A>G | NP_004106.1:p.Ile156Val | |
| NM_175929.2:c.481A>G | NP_787125.1:p.Ile161Val | |
| XM_011521053.1:c.286A>G | XP_011519355.1:p.Ile96Val | |
| NM_001321931.1:c.214A>G | NP_001308860.1:p.Ile72Val | |
| NM_001321932.1:c.277A>G | NP_001308861.1:p.Ile93Val | |
| NM_001321933.1:c.286A>G | NP_001308862.1:p.Ile96Val | |
| NM_001321934.1:c.214A>G | NP_001308863.1:p.Ile72Val | |
| NM_001321935.1:c.214A>G | NP_001308864.1:p.Ile72Val | |
| NM_001321936.1:c.277A>G | NP_001308865.1:p.Ile93Val | |
| NM_001321938.1:c.286A>G | NP_001308867.1:p.Ile96Val | |
| NM_001321939.1:c.370A>G | NP_001308868.1:p.Ile124Val | |
| NM_001321940.1:c.286A>G | NP_001308869.1:p.Ile96Val | |
| NM_001321941.1:c.280A>G | NP_001308870.1:p.Ile94Val | |
| NM_001321942.1:c.214A>G | NP_001308871.1:p.Ile72Val | |
| NM_001321943.1:c.214A>G | NP_001308872.1:p.Ile72Val | |
| NM_001321944.1:c.277A>G | NP_001308873.1:p.Ile93Val | |
| NM_001321945.1:c.364A>G | NP_001308874.1:p.Ile122Val | |
| NM_001321946.1:c.214A>G | NP_001308875.1:p.Ile72Val | |
| NM_001321947.1:c.325A>G | NP_001308876.1:p.Ile109Val | |
| NM_001321948.1:c.364A>G | NP_001308877.1:p.Ile122Val | |
| NM_001321949.1:c.214A>G | NP_001308878.1:p.Ile72Val | |
| NM_001321938.2:c.286A>G | NP_001308867.1:p.Ile96Val | |
| NM_001321945.2:c.364A>G | NP_001308874.1:p.Ile122Val | |
| NM_001321946.2:c.214A>G | NP_001308875.1:p.Ile72Val | |
| NM_001321947.2:c.325A>G | NP_001308876.1:p.Ile109Val | |
| NM_001321948.2:c.364A>G | NP_001308877.1:p.Ile122Val | |
| NM_001321939.2:c.370A>G | NP_001308868.1:p.Ile124Val | |
| NM_001321941.2:c.280A>G | NP_001308870.1:p.Ile94Val | |
| NM_001379342.1:c.364A>G | NP_001366271.1:p.Ile122Val | |
| NM_004115.4:c.466A>G MANE Select | NP_004106.1:p.Ile156Val | |
| NM_175929.3:c.481A>G | NP_787125.1:p.Ile161Val |