Linked Data
ClinVar Variation Id:
91735
ClinVar RCV Id:
RCV000077643
RCV000132403
RCV000198146
RCV000160158
RCV000587247
RCV004528280
RCV003460732
dbSNP Id:
rs398122714
ExAC:
13:32953506 T / C
gnomAD v2:
13-32953506-T-C
gnomAD v3:
13-32379369-T-C
gnomAD v4:
13-32379369-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379369T>C , CM000675.2:g.32379369T>C | GRCh38 |
| NC_000013.10:g.32953506T>C , CM000675.1:g.32953506T>C | GRCh37 |
| NC_000013.9:g.31851506T>C | NCBI36 |
| NG_012772.3:g.68890T>C , LRG_293:g.68890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8807T>C | ENSP00000434898.2:p.Leu2936Ser | |
| ENST00000528762.2:c.*174T>C | ENSP00000433168.2:n.*174T>C | |
| ENST00000530893.7:c.8438T>C | ENSP00000499438.2:p.Leu2813Ser | |
| ENST00000665585.2:c.*369T>C | ENSP00000499570.2:n.*369T>C | |
| ENST00000666593.2:c.8807T>C | ENSP00000499256.2:p.Leu2936Ser | |
| ENST00000700202.2:c.8807T>C | ENSP00000514856.2:p.Leu2936Ser | |
| ENST00000700202.1:c.1274T>C | ENSP00000514856.1:p.Leu425Ser | |
| ENST00000700203.1:n.934T>C | ||
| ENST00000380152.8:c.8807T>C MANE Select | ENSP00000369497.3:p.Leu2936Ser | |
| ENST00000544455.6:c.8807T>C | ENSP00000439902.1:p.Leu2936Ser | |
| ENST00000614259.2:c.8815T>C | ENSP00000506251.1:n.8815T>C | |
| ENST00000665585.1:c.1685T>C | ||
| ENST00000680887.1:c.8807T>C | ENSP00000505508.1:p.Leu2936Ser | |
| ENST00000380152.7:c.8807T>C | ENSP00000369497.3:p.Leu2936Ser | |
| ENST00000528762.1:c.369T>C | ENSP00000433168.1:n.369T>C | |
| ENST00000544455.5:c.8807T>C | ENSP00000439902.1:p.Leu2936Ser | |
| NM_000059.3:c.8807T>C , LRG_293t1:c.8807T>C | NP_000050.2:p.Leu2936Ser | |
| XM_011535203.1:c.8807T>C | XP_011533505.1:p.Leu2936Ser | |
| XM_011535204.1:c.8711T>C | XP_011533506.1:p.Leu2904Ser | |
| XM_011535205.1:c.8755-381T>C | XP_011533507.1:n.8755-381T>C | |
| NM_000059.4:c.8807T>C MANE Select | NP_000050.3:p.Leu2936Ser |