Linked Data
dbSNP Id:
rs80309960
ExAC:
2:216986833 T / A
gnomAD v2:
2-216986833-T-A
gnomAD v3:
2-216122110-T-A
gnomAD v4:
2-216122110-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216122110T>A , CM000664.2:g.216122110T>A | GRCh38 |
| NC_000002.11:g.216986833T>A , CM000664.1:g.216986833T>A | GRCh37 |
| NC_000002.10:g.216695078T>A | NCBI36 |
| NG_029780.1:g.17814T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392132.7:c.540T>A MANE Select | ENSP00000375977.2:p.Asp180Glu | |
| ENST00000392132.6:c.540T>A | ENSP00000375977.2:p.Asp180Glu | |
| ENST00000392133.7:c.540T>A | ENSP00000375978.3:p.Asp180Glu | |
| ENST00000460284.5:n.1082T>A | ||
| NM_021141.3:c.540T>A | NP_066964.1:p.Asp180Glu | |
| NM_021141.4:c.540T>A MANE Select | NP_066964.1:p.Asp180Glu |