Linked Data
ClinVar Variation Id:
2109780
ClinVar RCV Id:
RCV003042045
dbSNP Id:
rs201050149
ExAC:
5:1213653 G / T
gnomAD v2:
5-1213653-G-T
gnomAD v3:
5-1213538-G-T
gnomAD v4:
5-1213538-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213538G>T , CM000667.2:g.1213538G>T | GRCh38 |
| NC_000005.9:g.1213653G>T , CM000667.1:g.1213653G>T | GRCh37 |
| NC_000005.8:g.1266653G>T | NCBI36 |
| NG_008282.1:g.16944G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.739G>T MANE Select | ENSP00000305302.10:p.Ala247Ser | |
| ENST00000304460.10:c.739G>T | ENSP00000305302.10:p.Ala247Ser | |
| ENST00000515652.5:c.647G>T | ENSP00000425701.1:p.Arg216Leu | |
| NM_001003841.2:c.739G>T | NP_001003841.1:p.Ala247Ser | |
| NM_001003841.3:c.739G>T MANE Select | NP_001003841.1:p.Ala247Ser |