Linked Data
dbSNP Id:
rs17561
ExAC:
2:113537223 C / A
gnomAD v2:
2-113537223-C-A
gnomAD v3:
2-112779646-C-A
gnomAD v4:
2-112779646-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112779646C>A , CM000664.2:g.112779646C>A | GRCh38 |
| NC_000002.11:g.113537223C>A , CM000664.1:g.113537223C>A | GRCh37 |
| NC_000002.10:g.113253694C>A | NCBI36 |
| NG_008850.1:g.10749G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.340G>T MANE Select | ENSP00000263339.3:p.Ala114Ser | |
| ENST00000263339.3:c.340G>T | ENSP00000263339.3:p.Ala114Ser | |
| NM_000575.3:c.340G>T | NP_000566.3:p.Ala114Ser | |
| NM_000575.4:c.340G>T | NP_000566.3:p.Ala114Ser | |
| NM_000575.5:c.340G>T MANE Select | NP_000566.3:p.Ala114Ser | |
| NM_001371554.1:c.340G>T | NP_001358483.1:p.Ala114Ser |