Linked Data
ClinVar Variation Id:
485767
dbSNP Id:
rs767715328
ExAC:
7:116381021 C / T
gnomAD v2:
7-116381021-C-T
gnomAD v3:
7-116740967-C-T
gnomAD v4:
7-116740967-C-T
COSMIC:
COSM5997661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116740967C>T , CM000669.2:g.116740967C>T | GRCh38 |
| NC_000007.13:g.116381021C>T , CM000669.1:g.116381021C>T | GRCh37 |
| NC_000007.12:g.116168257C>T | NCBI36 |
| NG_008996.1:g.73563C>T , LRG_662:g.73563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.1643C>T | ENSP00000398776.2:p.Ser548Leu | |
| ENST00000436117.3:c.1643C>T | ENSP00000410980.2:p.Ser548Leu | |
| ENST00000318493.11:c.1643C>T | ENSP00000317272.6:p.Ser548Leu | |
| ENST00000397752.8:c.1643C>T MANE Select | ENSP00000380860.3:p.Ser548Leu | |
| ENST00000318493.10:c.1643C>T | ENSP00000317272.6:p.Ser548Leu | |
| ENST00000397752.7:c.1643C>T | ENSP00000380860.3:p.Ser548Leu | |
| ENST00000436117.2:c.1643C>T | ENSP00000410980.2:p.Ser548Leu | |
| ENST00000495962.1:n.623C>T | ||
| NM_000245.2:c.1643C>T | NP_000236.2:p.Ser548Leu | |
| NM_001127500.1:c.1643C>T , LRG_662t1:c.1643C>T | NP_001120972.1:p.Ser548Leu | |
| XM_006715990.2:c.353C>T | XP_006716053.1:p.Ser118Leu | |
| XM_006715991.2:c.353C>T | XP_006716054.1:p.Ser118Leu | |
| XM_011516223.1:c.1700C>T | XP_011514525.1:p.Ser567Leu | |
| NM_000245.3:c.1643C>T | NP_000236.2:p.Ser548Leu | |
| NM_001127500.2:c.1643C>T | NP_001120972.1:p.Ser548Leu | |
| NM_001324401.1:c.1643C>T | NP_001311330.1:p.Ser548Leu | |
| NM_001324402.1:c.353C>T | NP_001311331.1:p.Ser118Leu | |
| XR_001744772.1:n.1874C>T | ||
| NM_001127500.3:c.1643C>T | NP_001120972.1:p.Ser548Leu | |
| NM_000245.4:c.1643C>T MANE Select | NP_000236.2:p.Ser548Leu | |
| NM_001324401.2:c.1643C>T | NP_001311330.1:p.Ser548Leu | |
| NM_001324402.2:c.353C>T | NP_001311331.1:p.Ser118Leu | |
| NM_001324401.3:c.1643C>T | NP_001311330.1:p.Ser548Leu |