Linked Data
ClinVar Variation Id:
225392
ClinVar RCV Id:
RCV000490330
dbSNP Id:
rs148962208
ExAC:
2:227660220 G / A
gnomAD v2:
2-227660220-G-A
gnomAD v3:
2-226795504-G-A
gnomAD v4:
2-226795504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226795504G>A , CM000664.2:g.226795504G>A | GRCh38 |
| NC_000002.11:g.227660220G>A , CM000664.1:g.227660220G>A | GRCh37 |
| NC_000002.10:g.227368464G>A | NCBI36 |
| NG_015830.1:g.8287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305123.6:c.3235C>T MANE Select | ENSP00000304895.4:p.Pro1079Ser | |
| ENST00000305123.5:c.3235C>T | ENSP00000304895.4:p.Pro1079Ser | |
| NM_005544.2:c.3235C>T | NP_005535.1:p.Pro1079Ser | |
| NM_005544.3:c.3235C>T MANE Select | NP_005535.1:p.Pro1079Ser |