Linked Data
ClinVar Variation Id:
67020
ClinVar RCV Id:
RCV000057570
RCV000148543
RCV000154657
RCV000394030
RCV000305127
RCV000394039
RCV000306809
RCV001094051
RCV000852645
RCV002336208
RCV001841659
dbSNP Id:
rs12720457
ExAC:
11:2608850 G / T
gnomAD v2:
11-2608850-G-T
gnomAD v3:
11-2587620-G-T
gnomAD v4:
11-2587620-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587620G>T , CM000673.2:g.2587620G>T | GRCh38 |
| NC_000011.9:g.2608850G>T , CM000673.1:g.2608850G>T | GRCh37 |
| NC_000011.8:g.2565426G>T | NCBI36 |
| NG_008935.1:g.147630G>T , LRG_287:g.147630G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.822G>T | ENSP00000434560.2:p.Lys274Asn | |
| ENST00000646564.2:c.639G>T | ENSP00000495806.2:p.Lys213Asn | |
| ENST00000155840.12:c.1179G>T MANE Select | ENSP00000155840.2:p.Lys393Asn | |
| ENST00000335475.6:c.798G>T | ENSP00000334497.5:p.Lys266Asn | |
| ENST00000646564.1:c.285G>T | ENSP00000495806.1:p.Lys95Asn | |
| ENST00000155840.9:c.1179G>T | ENSP00000155840.2:p.Lys393Asn | |
| ENST00000335475.5:c.798G>T | ENSP00000334497.5:p.Lys266Asn | |
| NM_000218.2:c.1179G>T , LRG_287t1:c.1179G>T | NP_000209.2:p.Lys393Asn | |
| NM_181798.1:c.798G>T , LRG_287t2:c.798G>T | NP_861463.1:p.Lys266Asn | |
| NM_000218.3:c.1179G>T MANE Select | NP_000209.2:p.Lys393Asn |