Linked Data
ClinVar Variation Id:
457140
dbSNP Id:
rs61736656
ExAC:
19:41928988 A / G
gnomAD v2:
19-41928988-A-G
gnomAD v3:
19-41423083-A-G
gnomAD v4:
19-41423083-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41423083A>G , CM000681.2:g.41423083A>G | GRCh38 |
| NC_000019.9:g.41928988A>G , CM000681.1:g.41928988A>G | GRCh37 |
| NC_000019.8:g.46620828A>G | NCBI36 |
| NG_013004.1:g.30295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1081A>G MANE Select | ENSP00000269980.2:p.Ile361Val | |
| ENST00000269980.6:c.1081A>G | ENSP00000269980.2:p.Ile361Val | |
| ENST00000457836.6:c.1090A>G | ENSP00000416000.2:p.Ile364Val | |
| ENST00000540732.3:c.1183A>G | ENSP00000443246.1:p.Ile395Val | |
| ENST00000595085.5:c.922+386A>G | ENSP00000471150.2:n.922+386A>G | |
| NM_000709.3:c.1081A>G | NP_000700.1:p.Ile361Val | |
| NM_001164783.1:c.1078A>G | NP_001158255.1:p.Ile360Val | |
| NM_000709.4:c.1081A>G MANE Select | NP_000700.1:p.Ile361Val | |
| NM_001164783.2:c.1078A>G | NP_001158255.1:p.Ile360Val |