Linked Data
ClinVar Variation Id:
1137497
ClinVar RCV Id:
RCV001473504
dbSNP Id:
rs2137613055
MyVariant Identifiers:
chr13:g.32950880A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376743A>C , CM000675.2:g.32376743A>C | GRCh38 |
| NC_000013.10:g.32950880A>C , CM000675.1:g.32950880A>C | GRCh37 |
| NC_000013.9:g.31848880A>C | NCBI36 |
| NG_012772.3:g.66264A>C , LRG_293:g.66264A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8706A>C | ENSP00000434898.2:p.Ala2902= | |
| ENST00000528762.2:c.*73A>C | ENSP00000433168.2:n.*73A>C | |
| ENST00000530893.7:c.8337A>C | ENSP00000499438.2:p.Ala2779= | |
| ENST00000665585.2:c.*268A>C | ENSP00000499570.2:n.*268A>C | |
| ENST00000666593.2:c.8706A>C | ENSP00000499256.2:p.Ala2902= | |
| ENST00000700202.2:c.8706A>C | ENSP00000514856.2:p.Ala2902= | |
| ENST00000700202.1:c.1173A>C | ENSP00000514856.1:p.Ala391= | |
| ENST00000700203.1:n.833A>C | ||
| ENST00000380152.8:c.8706A>C MANE Select | ENSP00000369497.3:p.Ala2902= | |
| ENST00000544455.6:c.8706A>C | ENSP00000439902.1:p.Ala2902= | |
| ENST00000614259.2:c.8714A>C | ENSP00000506251.1:n.8714A>C | |
| ENST00000665585.1:c.1584A>C | ||
| ENST00000680887.1:c.8706A>C | ENSP00000505508.1:p.Ala2902= | |
| ENST00000380152.7:c.8706A>C | ENSP00000369497.3:p.Ala2902= | |
| ENST00000528762.1:c.268A>C | ENSP00000433168.1:n.268A>C | |
| ENST00000544455.5:c.8706A>C | ENSP00000439902.1:p.Ala2902= | |
| NM_000059.3:c.8706A>C , LRG_293t1:c.8706A>C | NP_000050.2:p.Ala2902= | |
| XM_011535203.1:c.8706A>C | XP_011533505.1:p.Ala2902= | |
| XM_011535204.1:c.8610A>C | XP_011533506.1:p.Ala2870= | |
| XM_011535205.1:c.8706A>C | XP_011533507.1:p.Ala2902= | |
| NM_000059.4:c.8706A>C MANE Select | NP_000050.3:p.Ala2902= |