Linked Data
ClinVar Variation Id:
1479699
ClinVar RCV Id:
RCV001976899
dbSNP Id:
rs919216834
gnomAD v2:
1-94487237-G-A
gnomAD v3:
1-94021681-G-A
gnomAD v4:
1-94021681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021681G>A , CM000663.2:g.94021681G>A | GRCh38 |
| NC_000001.10:g.94487237G>A , CM000663.1:g.94487237G>A | GRCh37 |
| NC_000001.9:g.94259825G>A | NCBI36 |
| NG_009073.1:g.104469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4807C>T MANE Select | ENSP00000359245.3:p.Pro1603Ser | |
| ENST00000370225.3:c.4807C>T | ENSP00000359245.3:p.Pro1603Ser | |
| ENST00000460514.1:n.301C>T | ||
| ENST00000536513.5:c.1183C>T | ENSP00000439707.2:p.Pro395Ser | |
| NM_000350.2:c.4807C>T | NP_000341.2:p.Pro1603Ser | |
| NM_000350.3:c.4807C>T MANE Select | NP_000341.2:p.Pro1603Ser |