Linked Data
ClinVar Variation Id:
38211
ClinVar RCV Id:
RCV000031794
RCV000045717
RCV000130861
RCV000120368
RCV000589726
RCV000735620
RCV001353989
dbSNP Id:
rs80359165
ExAC:
13:32954037 A / C
gnomAD v2:
13-32954037-A-C
gnomAD v3:
13-32379900-A-C
gnomAD v4:
13-32379900-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379900A>C , CM000675.2:g.32379900A>C | GRCh38 |
| NC_000013.10:g.32954037A>C , CM000675.1:g.32954037A>C | GRCh37 |
| NC_000013.9:g.31852037A>C | NCBI36 |
| NG_012772.3:g.69421A>C , LRG_293:g.69421A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9104A>C | ENSP00000434898.2:p.Tyr3035Ser | |
| ENST00000528762.2:c.*471A>C | ENSP00000433168.2:n.*471A>C | |
| ENST00000530893.7:c.8735A>C | ENSP00000499438.2:p.Tyr2912Ser | |
| ENST00000665585.2:c.*666A>C | ENSP00000499570.2:n.*666A>C | |
| ENST00000666593.2:c.9104A>C | ENSP00000499256.2:p.Tyr3035Ser | |
| ENST00000700202.2:c.9053A>C | ENSP00000514856.2:p.Tyr3018Ser | |
| ENST00000700202.1:c.1520A>C | ENSP00000514856.1:p.Tyr507Ser | |
| ENST00000700203.1:n.1231A>C | ||
| ENST00000380152.8:c.9104A>C MANE Select | ENSP00000369497.3:p.Tyr3035Ser | |
| ENST00000544455.6:c.9104A>C | ENSP00000439902.1:p.Tyr3035Ser | |
| ENST00000614259.2:c.9112A>C | ENSP00000506251.1:n.9112A>C | |
| ENST00000665585.1:c.1982A>C | ||
| ENST00000680887.1:c.9104A>C | ENSP00000505508.1:p.Tyr3035Ser | |
| ENST00000380152.7:c.9104A>C | ENSP00000369497.3:p.Tyr3035Ser | |
| ENST00000470094.1:c.61A>C | ||
| ENST00000544455.5:c.9104A>C | ENSP00000439902.1:p.Tyr3035Ser | |
| NM_000059.3:c.9104A>C , LRG_293t1:c.9104A>C | NP_000050.2:p.Tyr3035Ser | |
| XM_011535203.1:c.9104A>C | XP_011533505.1:p.Tyr3035Ser | |
| XM_011535204.1:c.9008A>C | XP_011533506.1:p.Tyr3003Ser | |
| NM_000059.4:c.9104A>C MANE Select | NP_000050.3:p.Tyr3035Ser |