Linked Data
ClinVar Variation Id:
2192082
ClinVar RCV Id:
RCV002633089
dbSNP Id:
rs762099212
ExAC:
7:5692045 T / C
gnomAD v2:
7-5692045-T-C
gnomAD v3:
7-5652414-T-C
gnomAD v4:
7-5652414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5652414T>C , CM000669.2:g.5652414T>C | GRCh38 |
| NC_000007.13:g.5692045T>C , CM000669.1:g.5692045T>C | GRCh37 |
| NC_000007.12:g.5658571T>C | NCBI36 |
| NG_029374.1:g.134317A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2158A>G MANE Select | ENSP00000374552.3:p.Ile720Val | |
| ENST00000389900.8:c.*1275A>G | ENSP00000374550.4:n.*1275A>G | |
| ENST00000389902.7:c.2158A>G | ENSP00000374552.3:p.Ile720Val | |
| ENST00000425013.6:c.1987A>G | ENSP00000404602.2:p.Ile663Val | |
| ENST00000484458.2:n.462A>G | ||
| NM_207111.3:c.2158A>G | NP_996994.1:p.Ile720Val | |
| NM_207116.2:c.1987A>G | NP_996999.1:p.Ile663Val | |
| XM_005249785.2:c.2158A>G | XP_005249842.1:p.Ile720Val | |
| XM_006715748.1:c.853A>G | XP_006715811.1:p.Ile285Val | |
| XM_011515434.1:c.2158A>G | XP_011513736.1:p.Ile720Val | |
| XM_011515436.1:c.853A>G | XP_011513738.1:p.Ile285Val | |
| XR_242090.1:n.2250A>G | ||
| XM_011515436.2:c.853A>G | XP_011513738.1:p.Ile285Val | |
| XM_017012363.2:c.1987A>G | XP_016867852.1:p.Ile663Val | |
| XM_017012364.2:c.2158A>G | XP_016867853.1:p.Met720Val | |
| XM_024446805.1:c.2158A>G | XP_024302573.1:p.Ile720Val | |
| XM_024446806.1:c.853A>G | XP_024302574.1:p.Ile285Val | |
| XM_024446807.1:c.853A>G | XP_024302575.1:p.Ile285Val | |
| NM_001377156.1:c.1987A>G | NP_001364085.1:p.Ile663Val | |
| NM_207111.4:c.2158A>G MANE Select | NP_996994.1:p.Ile720Val | |
| NM_207116.3:c.1987A>G | NP_996999.1:p.Ile663Val |