Linked Data
ClinVar Variation Id:
161570
ClinVar RCV Id:
RCV000149105
dbSNP Id:
rs193920887
COSMIC:
COSM1179949
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132141248T>A , CM000670.2:g.132141248T>A | GRCh38 |
| NC_000008.10:g.133153495T>A , CM000670.1:g.133153495T>A | GRCh37 |
| NC_000008.9:g.133222677T>A | NCBI36 |
| NG_008854.2:g.344510A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.1346A>T MANE Select | ENSP00000373648.3:p.Asn449Ile | |
| ENST00000521134.6:c.986A>T | ENSP00000429799.1:p.Asn329Ile | |
| ENST00000638588.1:c.1019A>T | ENSP00000491940.1:p.Asn340Ile | |
| ENST00000639496.1:c.936-6A>T | ENSP00000491165.1:n.936-6A>T | |
| ENST00000388996.8:c.1346A>T | ENSP00000373648.3:p.Asn449Ile | |
| ENST00000519445.5:c.1346A>T | ENSP00000428790.1:p.Asn449Ile | |
| ENST00000519589.1:n.1124A>T | ||
| ENST00000521134.5:c.986A>T | ENSP00000429799.1:p.Asn329Ile | |
| ENST00000621976.1:c.983A>T | ENSP00000482510.1:p.Asn328Ile | |
| NM_001204824.1:c.986A>T | NP_001191753.1:p.Asn329Ile | |
| NM_004519.3:c.1346A>T | NP_004510.1:p.Asn449Ile | |
| XM_005250914.2:c.107-6A>T | XP_005250971.1:n.107-6A>T | |
| XM_006716555.2:c.638A>T | XP_006716618.1:p.Asn213Ile | |
| XM_011517026.1:c.986A>T | XP_011515328.1:p.Asn329Ile | |
| XM_005250914.3:c.107-6A>T | XP_005250971.1:n.107-6A>T | |
| XM_006716555.3:c.638A>T | XP_006716618.1:p.Asn213Ile | |
| XM_011517026.2:c.986A>T | XP_011515328.1:p.Asn329Ile | |
| XM_017013400.1:c.1124A>T | XP_016868889.1:p.Asn375Ile | |
| NM_004519.4:c.1346A>T MANE Select | NP_004510.1:p.Asn449Ile | |
| NM_001204824.2:c.986A>T | NP_001191753.1:p.Asn329Ile |