Linked Data
dbSNP Id:
rs776627171
ExAC:
17:59667950 C / T
gnomAD v2:
17-59667950-C-T
gnomAD v4:
17-61590589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590589C>T , CM000679.2:g.61590589C>T | GRCh38 |
| NC_000017.10:g.59667950C>T , CM000679.1:g.59667950C>T | GRCh37 |
| NC_000017.9:g.57022732C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.592G>A MANE Select | ENSP00000427802.1:p.Ala198Thr | |
| ENST00000521764.2:c.592G>A | ENSP00000427802.1:p.Ala198Thr | |
| NM_199290.3:c.592G>A | NP_954984.1:p.Ala198Thr | |
| NM_199290.4:c.592G>A MANE Select | NP_954984.1:p.Ala198Thr |