Linked Data
ClinVar Variation Id:
1468010
ClinVar RCV Id:
RCV001968781
dbSNP Id:
rs990661864
gnomAD v2:
19-6682209-T-C
gnomAD v3:
19-6682198-T-C
gnomAD v4:
19-6682198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682198T>C , CM000681.2:g.6682198T>C | GRCh38 |
| NC_000019.9:g.6682209T>C , CM000681.1:g.6682209T>C | GRCh37 |
| NC_000019.8:g.6633209T>C | NCBI36 |
| NG_009557.1:g.43454A>G , LRG_27:g.43454A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2552A>G | ||
| ENST00000695653.1:c.2113A>G | ENSP00000512084.1:p.Ile705Val | |
| ENST00000695654.1:c.3229A>G | ENSP00000512085.1:p.Ile1077Val | |
| ENST00000695689.1:c.175A>G | ENSP00000512101.1:n.175A>G | |
| ENST00000695690.1:n.395A>G | ||
| ENST00000695691.1:n.395A>G | ||
| ENST00000245907.11:c.4204A>G MANE Select | ENSP00000245907.4:p.Ile1402Val | |
| ENST00000245907.10:c.4204A>G | ENSP00000245907.4:p.Ile1402Val | |
| ENST00000596548.1:c.325A>G | ENSP00000469744.1:p.Ile109Val | |
| ENST00000599899.5:n.1163A>G | ||
| ENST00000601008.1:c.242-4240A>G | ENSP00000471384.1:n.242-4240A>G | |
| NM_000064.3:c.4204A>G | NP_000055.2:p.Ile1402Val | |
| NM_000064.4:c.4204A>G MANE Select | NP_000055.2:p.Ile1402Val |