Linked Data
ClinVar Variation Id:
2083965
ClinVar RCV Id:
RCV003009316
dbSNP Id:
rs373349983
ExAC:
6:108192994 T / C
gnomAD v2:
6-108192994-T-C
gnomAD v4:
6-107871790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107871790T>C , CM000668.2:g.107871790T>C | GRCh38 |
| NC_000006.11:g.108192994T>C , CM000668.1:g.108192994T>C | GRCh37 |
| NC_000006.10:g.108299687T>C | NCBI36 |
| NG_008270.1:g.91489A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.2197A>G MANE Select | ENSP00000357998.4:p.Ile733Val | |
| ENST00000369002.8:c.2197A>G | ENSP00000357998.4:p.Ile733Val | |
| ENST00000459782.1:n.1000A>G | ||
| NM_007214.4:c.2197A>G | NP_009145.1:p.Ile733Val | |
| XM_011535399.1:c.2029A>G | XP_011533701.1:p.Ile677Val | |
| XM_017010218.2:c.1099A>G | XP_016865707.1:p.Ile367Val | |
| NM_007214.5:c.2197A>G MANE Select | NP_009145.1:p.Ile733Val |