Linked Data
ClinVar Variation Id:
1763909
ClinVar RCV Id:
RCV002447895
dbSNP Id:
rs1057519943
COSMIC:
COSM5031034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132676598G>A , CM000674.2:g.132676598G>A | GRCh38 |
| NC_000012.11:g.133253184G>A , CM000674.1:g.133253184G>A | GRCh37 |
| NC_000012.10:g.131763257G>A | NCBI36 |
| NG_033840.1:g.15927C>T , LRG_789:g.15927C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545015.2:n.884C>T | ||
| ENST00000699982.1:c.703C>T | ||
| ENST00000699983.1:c.703C>T | ||
| ENST00000699984.1:c.703C>T | ||
| ENST00000320574.10:c.857C>T MANE Select | ENSP00000322570.5:p.Pro286Leu | |
| ENST00000672742.1:c.*351C>T | ENSP00000500279.1:n.*351C>T | |
| ENST00000320574.9:c.857C>T | ENSP00000322570.5:p.Pro286Leu | |
| ENST00000535270.5:c.776C>T | ENSP00000445753.1:p.Pro259Leu | |
| ENST00000537064.5:c.857C>T | ENSP00000442578.1:p.Pro286Leu | |
| NM_006231.3:c.857C>T , LRG_789t1:c.857C>T | NP_006222.2:p.Pro286Leu | |
| XM_011534795.1:c.857C>T | XP_011533097.1:p.Pro286Leu | |
| XM_011534796.1:c.728C>T | XP_011533098.1:p.Pro243Leu | |
| XM_011534797.1:c.-45C>T | XP_011533099.1:n.-45C>T | |
| XM_011534799.1:c.857C>T | XP_011533101.1:p.Pro286Leu | |
| XM_011534800.1:c.857C>T | XP_011533102.1:p.Pro286Leu | |
| XM_011534801.1:c.857C>T | XP_011533103.1:p.Pro286Leu | |
| XR_941395.1:n.1066C>T | ||
| XM_011534795.3:c.857C>T | XP_011533097.1:p.Pro286Leu | |
| XM_011534797.3:c.-45C>T | XP_011533099.1:n.-45C>T | |
| XM_011534799.2:c.857C>T | XP_011533101.1:p.Pro286Leu | |
| XR_002957338.1:n.1061C>T | ||
| XR_002957339.1:n.1061C>T | ||
| XR_941395.2:n.1061C>T | ||
| NM_006231.4:c.857C>T MANE Select | NP_006222.2:p.Pro286Leu |