Linked Data
ClinVar Variation Id:
402169
ClinVar RCV Id:
RCV000454313
dbSNP Id:
rs767673427
ExAC:
10:29788083 G / A
gnomAD v2:
10-29788083-G-A
gnomAD v3:
10-29499154-G-A
gnomAD v4:
10-29499154-G-A
COSMIC:
COSM1347519
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.29499154G>A , CM000672.2:g.29499154G>A | GRCh38 |
| NC_000010.10:g.29788083G>A , CM000672.1:g.29788083G>A | GRCh37 |
| NC_000010.9:g.29828089G>A | NCBI36 |
| NG_033998.1:g.241648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355867.9:c.3626C>T (SVIL) MANE Select | ENSP00000348128.4:p.Ser1209Leu | |
| ENST00000684815.1:n.237-11274G>A (SVIL-AS1) | ||
| ENST00000674475.1:c.2696C>T (SVIL) | ENSP00000501521.1:p.Ser899Leu | |
| ENST00000355867.8:c.3626C>T (SVIL) | ENSP00000348128.4:p.Ser1209Leu | |
| ENST00000375398.6:c.3530C>T (SVIL) | ENSP00000364547.3:p.Ser1177Leu | |
| ENST00000375400.7:c.2348C>T (SVIL) | ENSP00000364549.3:p.Ser783Leu | |
| ENST00000491872.1:n.305C>T (SVIL) | ||
| ENST00000632315.1:c.403C>T (SVIL) | ||
| NM_003174.3:c.2348C>T (SVIL) | NP_003165.2:p.Ser783Leu | |
| NM_021738.2:c.3626C>T (SVIL) | NP_068506.2:p.Ser1209Leu | |
| XM_005252570.2:c.3752C>T (SVIL) | XP_005252627.1:p.Ser1251Leu | |
| XM_005252571.2:c.3752C>T (SVIL) | XP_005252628.1:p.Ser1251Leu | |
| XM_005252573.2:c.3752C>T (SVIL) | XP_005252630.1:p.Ser1251Leu | |
| XM_011519630.1:c.3674C>T (SVIL) | XP_011517932.1:p.Ser1225Leu | |
| XM_011519631.1:c.3656C>T (SVIL) | XP_011517933.1:p.Ser1219Leu | |
| XM_011519632.1:c.3581C>T (SVIL) | XP_011517934.1:p.Ser1194Leu | |
| XM_011519633.1:c.3530C>T (SVIL) | XP_011517935.1:p.Ser1177Leu | |
| XM_011519634.1:c.3752C>T (SVIL) | XP_011517936.1:p.Ser1251Leu | |
| XM_011519635.1:c.3752C>T (SVIL) | XP_011517937.1:p.Ser1251Leu | |
| XM_011519636.1:c.2822C>T (SVIL) | XP_011517938.1:p.Ser941Leu | |
| XM_011519637.1:c.2570C>T (SVIL) | XP_011517939.1:p.Ser857Leu | |
| XM_011519638.1:c.2474C>T (SVIL) | XP_011517940.1:p.Ser825Leu | |
| NM_001323599.1:c.2696C>T (SVIL) | NP_001310528.1:p.Ser899Leu | |
| NM_001323600.1:c.2444C>T (SVIL) | NP_001310529.1:p.Ser815Leu | |
| XM_005252571.4:c.3752C>T (SVIL) | XP_005252628.1:p.Ser1251Leu | |
| XM_005252573.3:c.3752C>T (SVIL) | XP_005252630.1:p.Ser1251Leu | |
| XM_011519635.2:c.3752C>T (SVIL) | XP_011517937.1:p.Ser1251Leu | |
| XM_024448138.1:c.3986C>T (SVIL) | XP_024303906.1:p.Ser1329Leu | |
| XM_024448139.1:c.3674C>T (SVIL) | XP_024303907.1:p.Ser1225Leu | |
| XM_024448140.1:c.3671C>T (SVIL) | XP_024303908.1:p.Ser1224Leu | |
| XM_024448141.1:c.3656C>T (SVIL) | XP_024303909.1:p.Ser1219Leu | |
| XM_024448142.1:c.3581C>T (SVIL) | XP_024303910.1:p.Ser1194Leu | |
| XM_024448143.1:c.3530C>T (SVIL) | XP_024303911.1:p.Ser1177Leu | |
| XM_024448144.1:c.2822C>T (SVIL) | XP_024303912.1:p.Ser941Leu | |
| XM_024448145.1:c.2726C>T (SVIL) | XP_024303913.1:p.Ser909Leu | |
| XM_024448146.1:c.2651C>T (SVIL) | XP_024303914.1:p.Ser884Leu | |
| XM_024448147.1:c.2570C>T (SVIL) | XP_024303915.1:p.Ser857Leu | |
| XM_024448148.1:c.2474C>T (SVIL) | XP_024303916.1:p.Ser825Leu | |
| NM_001323599.2:c.2696C>T (SVIL) | NP_001310528.1:p.Ser899Leu | |
| NM_021738.3:c.3626C>T (SVIL) MANE Select | NP_068506.2:p.Ser1209Leu |