Linked Data
dbSNP Id:
rs372134496
ExAC:
17:59668149 T / A
gnomAD v3:
17-61590788-T-A
gnomAD v4:
17-61590788-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590788T>A , CM000679.2:g.61590788T>A | GRCh38 |
| NC_000017.10:g.59668149T>A , CM000679.1:g.59668149T>A | GRCh37 |
| NC_000017.9:g.57022931T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.393A>T MANE Select | ENSP00000427802.1:p.Leu131Phe | |
| ENST00000521764.2:c.393A>T | ENSP00000427802.1:p.Leu131Phe | |
| NM_199290.3:c.393A>T | NP_954984.1:p.Leu131Phe | |
| NM_199290.4:c.393A>T MANE Select | NP_954984.1:p.Leu131Phe |