Linked Data
ClinVar Variation Id:
1574105
ClinVar RCV Id:
RCV002080448
dbSNP Id:
rs2116222791
gnomAD v4:
7-117665516-T-C
MyVariant Identifiers:
chr7:g.117305570T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665516T>C , CM000669.2:g.117665516T>C | GRCh38 |
| NC_000007.13:g.117305570T>C , CM000669.1:g.117305570T>C | GRCh37 |
| NC_000007.12:g.117092806T>C | NCBI36 |
| NG_016465.4:g.204733T>C , LRG_663:g.204733T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*403T>C | ENSP00000497673.2:n.*403T>C | |
| ENST00000647978.2:c.*3908T>C | ENSP00000497658.1:n.*3908T>C | |
| ENST00000649781.2:c.4011T>C | ENSP00000497203.1:p.Ile1337= | |
| ENST00000685018.2:c.*407T>C | ENSP00000510194.2:n.*407T>C | |
| ENST00000687278.2:c.*847T>C | ENSP00000509593.2:n.*847T>C | |
| ENST00000699585.1:c.*403T>C | ENSP00000514456.1:n.*403T>C | |
| ENST00000699598.1:c.4194T>C | ENSP00000514467.1:p.Ile1398= | |
| ENST00000699599.1:c.*407T>C | ENSP00000514468.1:n.*407T>C | |
| ENST00000699600.1:c.*855T>C | ENSP00000514469.1:n.*855T>C | |
| ENST00000699601.1:c.*2569T>C | ENSP00000514470.1:n.*2569T>C | |
| ENST00000699602.1:c.4188T>C | ENSP00000514471.1:p.Ile1396= | |
| ENST00000699604.1:c.*4018T>C | ENSP00000514472.1:n.*4018T>C | |
| ENST00000699605.1:c.3768T>C | ENSP00000514473.1:p.Ile1256= | |
| ENST00000699606.1:n.2362T>C | ||
| ENST00000685018.1:c.1058T>C | ENSP00000510194.1:n.1058T>C | |
| ENST00000687278.1:c.1981T>C | ENSP00000509593.1:n.1981T>C | |
| ENST00000689011.1:c.776T>C | ||
| ENST00000003084.11:c.4194T>C MANE Select | ENSP00000003084.6:p.Ile1398= | |
| ENST00000647720.1:c.1644T>C | ||
| ENST00000649781.1:c.4011T>C | ENSP00000497203.1:p.Ile1337= | |
| ENST00000003084.10:c.4194T>C | ENSP00000003084.6:p.Ile1398= | |
| ENST00000426809.5:c.4104T>C | ENSP00000389119.1:p.Ile1368= | |
| ENST00000600166.1:c.320T>C | ||
| NM_000492.3:c.4194T>C , LRG_663t1:c.4194T>C | NP_000483.3:p.Ile1398= | |
| XM_011515751.1:c.4284T>C | XP_011514053.1:p.Ile1428= | |
| XM_011515752.1:c.4284T>C | XP_011514054.1:p.Ile1428= | |
| XM_011515753.1:c.3951T>C | XP_011514055.1:p.Ile1317= | |
| XM_011515754.1:c.3951T>C | XP_011514056.1:p.Ile1317= | |
| NM_000492.4:c.4194T>C MANE Select | NP_000483.3:p.Ile1398= |