Linked Data
ClinVar Variation Id:
42488
ClinVar RCV Id:
RCV000035344
RCV000253955
RCV000300054
RCV000315174
RCV000368527
RCV000397478
RCV000397505
RCV001094058
RCV001841558
dbSNP Id:
rs1057128
ExAC:
11:2797237 G / A
gnomAD v2:
11-2797237-G-A
gnomAD v3:
11-2776007-G-A
gnomAD v4:
11-2776007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776007G>A , CM000673.2:g.2776007G>A | GRCh38 |
| NC_000011.9:g.2797237G>A , CM000673.1:g.2797237G>A | GRCh37 |
| NC_000011.8:g.2753813G>A | NCBI36 |
| NG_008935.1:g.336017G>A , LRG_287:g.336017G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1281G>A | ENSP00000434560.2:p.Ser427= | |
| ENST00000646564.2:c.1098G>A | ENSP00000495806.2:p.Ser366= | |
| ENST00000155840.12:c.1638G>A MANE Select | ENSP00000155840.2:p.Ser546= | |
| ENST00000335475.6:c.1257G>A | ENSP00000334497.5:p.Ser419= | |
| ENST00000646564.1:c.744G>A | ENSP00000495806.1:p.Ser248= | |
| ENST00000155840.9:c.1638G>A | ENSP00000155840.2:p.Ser546= | |
| ENST00000335475.5:c.1257G>A | ENSP00000334497.5:p.Ser419= | |
| NM_000218.2:c.1638G>A , LRG_287t1:c.1638G>A | NP_000209.2:p.Ser546= | |
| NM_181798.1:c.1257G>A , LRG_287t2:c.1257G>A | NP_861463.1:p.Ser419= | |
| NM_000218.3:c.1638G>A MANE Select | NP_000209.2:p.Ser546= |