Linked Data
ClinVar Variation Id:
1735314
ClinVar RCV Id:
RCV002364023
MyVariant Identifiers:
chr7:g.117282602A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642548A>T , CM000669.2:g.117642548A>T | GRCh38 |
| NC_000007.13:g.117282602A>T , CM000669.1:g.117282602A>T | GRCh37 |
| NC_000007.12:g.117069838A>T | NCBI36 |
| NG_016465.4:g.181765A>T , LRG_663:g.181765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*37A>T | ENSP00000497673.2:n.*37A>T | |
| ENST00000647978.2:c.*3542A>T | ENSP00000497658.1:n.*3542A>T | |
| ENST00000649781.2:c.3645A>T | ENSP00000497203.1:p.Ser1215= | |
| ENST00000685018.2:c.3828A>T | ENSP00000510194.2:p.Ser1276= | |
| ENST00000687278.2:c.*481A>T | ENSP00000509593.2:n.*481A>T | |
| ENST00000699585.1:c.*37A>T | ENSP00000514456.1:n.*37A>T | |
| ENST00000699598.1:c.3828A>T | ENSP00000514467.1:p.Ser1276= | |
| ENST00000699599.1:c.3828A>T | ENSP00000514468.1:p.Ser1276= | |
| ENST00000699600.1:c.*489A>T | ENSP00000514469.1:n.*489A>T | |
| ENST00000699601.1:c.*2203A>T | ENSP00000514470.1:n.*2203A>T | |
| ENST00000699602.1:c.3822A>T | ENSP00000514471.1:p.Ser1274= | |
| ENST00000699604.1:c.*3652A>T | ENSP00000514472.1:n.*3652A>T | |
| ENST00000699605.1:c.3402A>T | ENSP00000514473.1:p.Ser1134= | |
| ENST00000685018.1:c.576A>T | ENSP00000510194.1:p.Ser192= | |
| ENST00000687278.1:c.1615A>T | ENSP00000509593.1:n.1615A>T | |
| ENST00000689011.1:c.410A>T | ||
| ENST00000003084.11:c.3828A>T MANE Select | ENSP00000003084.6:p.Ser1276= | |
| ENST00000647720.1:c.1278A>T | ||
| ENST00000649781.1:c.3645A>T | ENSP00000497203.1:p.Ser1215= | |
| ENST00000003084.10:c.3828A>T | ENSP00000003084.6:p.Ser1276= | |
| ENST00000426809.5:c.3738A>T | ENSP00000389119.1:p.Ser1246= | |
| NM_000492.3:c.3828A>T , LRG_663t1:c.3828A>T | NP_000483.3:p.Ser1276= | |
| XM_011515751.1:c.3918A>T | XP_011514053.1:p.Ser1306= | |
| XM_011515752.1:c.3918A>T | XP_011514054.1:p.Ser1306= | |
| XM_011515753.1:c.3585A>T | XP_011514055.1:p.Ser1195= | |
| XM_011515754.1:c.3585A>T | XP_011514056.1:p.Ser1195= | |
| NM_000492.4:c.3828A>T MANE Select | NP_000483.3:p.Ser1276= |