Linked Data
ClinVar Variation Id:
1484975
ClinVar RCV Id:
RCV002030288
dbSNP Id:
rs1417794324
gnomAD v4:
14-53951928-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53951928T>C , CM000676.2:g.53951928T>C | GRCh38 |
| NC_000014.8:g.54418646T>C , CM000676.1:g.54418646T>C | GRCh37 |
| NC_000014.7:g.53488396T>C | NCBI36 |
| NG_009215.1:g.9909A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245451.9:c.295A>G MANE Select | ENSP00000245451.4:p.Ile99Val | |
| ENST00000245451.8:c.295A>G | ENSP00000245451.4:p.Ile99Val | |
| ENST00000417573.5:c.295A>G | ENSP00000394165.1:p.Ile99Val | |
| ENST00000558961.1:c.220A>G | ENSP00000453691.1:p.Ile74Val | |
| ENST00000558984.1:c.295A>G | ENSP00000454134.1:p.Ile99Val | |
| ENST00000559087.5:c.295A>G | ENSP00000453485.1:p.Ile99Val | |
| ENST00000559501.1:c.106A>G | ENSP00000453365.1:p.Ile36Val | |
| ENST00000559642.1:c.295A>G | ENSP00000453467.1:p.Ile99Val | |
| NM_001202.3:c.295A>G | NP_001193.2:p.Ile99Val | |
| NM_130850.2:c.295A>G | NP_570911.2:p.Ile99Val | |
| NM_130851.2:c.295A>G | NP_570912.2:p.Ile99Val | |
| XM_005268015.3:c.295A>G | XP_005268072.1:p.Ile99Val | |
| NM_001202.5:c.295A>G | NP_001193.2:p.Ile99Val | |
| NM_001347912.1:c.436A>G | NP_001334841.1:p.Ile146Val | |
| NM_001347913.1:c.106A>G | NP_001334842.1:p.Ile36Val | |
| NM_001347914.1:c.295A>G | NP_001334843.1:p.Ile99Val | |
| NM_001347915.1:c.106A>G | NP_001334844.1:p.Ile36Val | |
| NM_001347916.1:c.295A>G | NP_001334845.1:p.Ile99Val | |
| NM_001347917.1:c.106A>G | NP_001334846.1:p.Ile36Val | |
| NM_130850.4:c.295A>G | NP_570911.2:p.Ile99Val | |
| NM_130851.3:c.295A>G | NP_570912.2:p.Ile99Val | |
| NM_001202.6:c.295A>G MANE Select | NP_001193.2:p.Ile99Val | |
| NM_130850.5:c.295A>G | NP_570911.2:p.Ile99Val | |
| NM_001347913.2:c.106A>G | NP_001334842.1:p.Ile36Val | |
| NM_001347914.2:c.295A>G | NP_001334843.1:p.Ile99Val | |
| NM_001347915.2:c.106A>G | NP_001334844.1:p.Ile36Val | |
| NM_130851.4:c.295A>G | NP_570912.2:p.Ile99Val |