Linked Data
ClinVar Variation Id:
51343
ClinVar RCV Id:
RCV000077285
RCV000120345
RCV000167848
RCV000162622
RCV000299643
RCV000656593
RCV001353953
RCV003149672
dbSNP Id:
rs2227943
ExAC:
13:32911278 T / C
gnomAD v2:
13-32911278-T-C
gnomAD v3:
13-32337141-T-C
gnomAD v4:
13-32337141-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32337141T>C , CM000675.2:g.32337141T>C | GRCh38 |
| NC_000013.10:g.32911278T>C , CM000675.1:g.32911278T>C | GRCh37 |
| NC_000013.9:g.31809278T>C | NCBI36 |
| NG_012772.3:g.26662T>C , LRG_293:g.26662T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.2786T>C | ENSP00000434898.2:p.Leu929Ser | |
| ENST00000528762.2:c.2786T>C | ENSP00000433168.2:p.Leu929Ser | |
| ENST00000530893.7:c.2417T>C | ENSP00000499438.2:p.Leu806Ser | |
| ENST00000665585.2:c.2786T>C | ENSP00000499570.2:p.Leu929Ser | |
| ENST00000666593.2:c.2786T>C | ENSP00000499256.2:p.Leu929Ser | |
| ENST00000700202.2:c.2786T>C | ENSP00000514856.2:p.Leu929Ser | |
| ENST00000380152.8:c.2786T>C MANE Select | ENSP00000369497.3:p.Leu929Ser | |
| ENST00000544455.6:c.2786T>C | ENSP00000439902.1:p.Leu929Ser | |
| ENST00000614259.2:c.2786T>C | ENSP00000506251.1:p.Leu929Ser | |
| ENST00000680887.1:c.2786T>C | ENSP00000505508.1:p.Leu929Ser | |
| ENST00000380152.7:c.2786T>C | ENSP00000369497.3:p.Leu929Ser | |
| ENST00000544455.5:c.2786T>C | ENSP00000439902.1:p.Leu929Ser | |
| ENST00000614259.1:n.2786T>C | ||
| NM_000059.3:c.2786T>C , LRG_293t1:c.2786T>C | NP_000050.2:p.Leu929Ser | |
| XM_011535203.1:c.2786T>C | XP_011533505.1:p.Leu929Ser | |
| XM_011535204.1:c.2786T>C | XP_011533506.1:p.Leu929Ser | |
| XM_011535205.1:c.2786T>C | XP_011533507.1:p.Leu929Ser | |
| NM_000059.4:c.2786T>C MANE Select | NP_000050.3:p.Leu929Ser |