Linked Data
dbSNP Id:
rs760724527
ExAC:
17:64224244 T / G
gnomAD v2:
17-64224244-T-G
gnomAD v4:
17-66228126-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228126T>G , CM000679.2:g.66228126T>G | GRCh38 |
| NC_000017.10:g.64224244T>G , CM000679.1:g.64224244T>G | GRCh37 |
| NC_000017.9:g.61654706T>G | NCBI36 |
| NG_012045.1:g.6313A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.135A>C MANE Select | ENSP00000205948.6:p.Glu45Asp | |
| ENST00000205948.10:c.135A>C | ENSP00000205948.6:p.Glu45Asp | |
| ENST00000577982.1:c.135A>C | ENSP00000464301.1:p.Glu45Asp | |
| ENST00000581797.5:c.-46A>C | ENSP00000463553.1:n.-46A>C | |
| NM_000042.2:c.135A>C | NP_000033.2:p.Glu45Asp | |
| NM_000042.3:c.135A>C MANE Select | NP_000033.2:p.Glu45Asp |