Linked Data
ClinVar Variation Id:
474247
ClinVar RCV Id:
RCV000548189
dbSNP Id:
rs1555016408
gnomAD v3:
11-66346537-T-A
gnomAD v4:
11-66346537-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346537T>A , CM000673.2:g.66346537T>A | GRCh38 |
| NC_000011.9:g.66114008T>A , CM000673.1:g.66114008T>A | GRCh37 |
| NC_000011.8:g.65870584T>A | NCBI36 |
| NG_033202.1:g.6154A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.1009A>T MANE Select | ENSP00000309096.4:p.Thr337Ser | |
| ENST00000311181.4:c.1009A>T | ENSP00000309096.4:p.Thr337Ser | |
| NM_006876.2:c.1009A>T | NP_006867.1:p.Thr337Ser | |
| NM_006876.3:c.1009A>T MANE Select | NP_006867.1:p.Thr337Ser |