Linked Data
dbSNP Id:
rs12621643
gnomAD v2:
2-223917983-T-A
gnomAD v3:
2-223053265-T-A
gnomAD v4:
2-223053265-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053265T>A , CM000664.2:g.223053265T>A | GRCh38 |
| NC_000002.11:g.223917983T>A , CM000664.1:g.223917983T>A | GRCh37 |
| NC_000002.10:g.223626227T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281830.4:c.435T>A MANE Select | ENSP00000281830.5:p.Asp145Glu | |
| ENST00000281830.3:c.588T>A | ENSP00000281830.4:p.Asp196Glu | |
| ENST00000488477.2:n.75+991T>A | ||
| NM_080671.3:c.588T>A | NP_542402.3:p.Asp196Glu | |
| NM_080671.4:c.435T>A MANE Select | NP_542402.4:p.Asp145Glu |