Linked Data
ClinVar Variation Id:
1004294
ClinVar RCV Id:
RCV001300978
dbSNP Id:
rs917006966
gnomAD v2:
3-49160251-C-A
gnomAD v3:
3-49122818-C-A
gnomAD v4:
3-49122818-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122818C>A , CM000665.2:g.49122818C>A | GRCh38 |
| NC_000003.11:g.49160251C>A , CM000665.1:g.49160251C>A | GRCh37 |
| NC_000003.10:g.49135255C>A | NCBI36 |
| NG_008094.1:g.15349G>T | |
| NG_054716.1:g.3121G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4459G>T MANE Select | ENSP00000307156.4:p.Ala1487Ser | |
| ENST00000305544.8:c.4459G>T | ENSP00000307156.4:p.Ala1487Ser | |
| ENST00000418109.5:c.4459G>T | ENSP00000388325.1:p.Ala1487Ser | |
| ENST00000469665.1:n.768G>T | ||
| NM_002292.3:c.4459G>T | NP_002283.3:p.Ala1487Ser | |
| XM_005265127.3:c.4459G>T | XP_005265184.1:p.Ala1487Ser | |
| XM_005265127.4:c.4459G>T | XP_005265184.1:p.Ala1487Ser | |
| NM_002292.4:c.4459G>T MANE Select | NP_002283.3:p.Ala1487Ser |