Linked Data
ClinVar Variation Id:
53806
ClinVar RCV Id:
RCV000577299
dbSNP Id:
rs76649725
gnomAD v3:
7-117642484-C-T
gnomAD v4:
7-117642484-C-T
PubMed:
PMID:9842999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642484C>T , CM000669.2:g.117642484C>T | GRCh38 |
| NC_000007.13:g.117282538C>T , CM000669.1:g.117282538C>T | GRCh37 |
| NC_000007.12:g.117069774C>T | NCBI36 |
| NG_016465.4:g.181701C>T , LRG_663:g.181701C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3564C>T | ENSP00000497673.2:p.Ile1188= | |
| ENST00000647978.2:c.*3478C>T | ENSP00000497658.1:n.*3478C>T | |
| ENST00000649781.2:c.3581C>T | ENSP00000497203.1:p.Ser1194Leu | |
| ENST00000685018.2:c.3764C>T | ENSP00000510194.2:p.Ser1255Leu | |
| ENST00000687278.2:c.*417C>T | ENSP00000509593.2:n.*417C>T | |
| ENST00000699585.1:c.3564C>T | ENSP00000514456.1:p.Ile1188= | |
| ENST00000699598.1:c.3764C>T | ENSP00000514467.1:p.Ser1255Leu | |
| ENST00000699599.1:c.3764C>T | ENSP00000514468.1:p.Ser1255Leu | |
| ENST00000699600.1:c.*425C>T | ENSP00000514469.1:n.*425C>T | |
| ENST00000699601.1:c.*2139C>T | ENSP00000514470.1:n.*2139C>T | |
| ENST00000699602.1:c.3758C>T | ENSP00000514471.1:p.Ser1253Leu | |
| ENST00000699604.1:c.*3588C>T | ENSP00000514472.1:n.*3588C>T | |
| ENST00000699605.1:c.3338C>T | ENSP00000514473.1:p.Ser1113Leu | |
| ENST00000685018.1:c.512C>T | ENSP00000510194.1:p.Ser171Leu | |
| ENST00000687278.1:c.1551C>T | ENSP00000509593.1:n.1551C>T | |
| ENST00000689011.1:c.346C>T | ||
| ENST00000003084.11:c.3764C>T MANE Select | ENSP00000003084.6:p.Ser1255Leu | |
| ENST00000647720.1:c.1214C>T | ||
| ENST00000649781.1:c.3581C>T | ENSP00000497203.1:p.Ser1194Leu | |
| ENST00000003084.10:c.3764C>T | ENSP00000003084.6:p.Ser1255Leu | |
| ENST00000426809.5:c.3674C>T | ENSP00000389119.1:p.Ser1225Leu | |
| NM_000492.3:c.3764C>T , LRG_663t1:c.3764C>T | NP_000483.3:p.Ser1255Leu | |
| XM_011515751.1:c.3854C>T | XP_011514053.1:p.Ser1285Leu | |
| XM_011515752.1:c.3854C>T | XP_011514054.1:p.Ser1285Leu | |
| XM_011515753.1:c.3521C>T | XP_011514055.1:p.Ser1174Leu | |
| XM_011515754.1:c.3521C>T | XP_011514056.1:p.Ser1174Leu | |
| NM_000492.4:c.3764C>T MANE Select | NP_000483.3:p.Ser1255Leu |