Linked Data
ClinVar Variation Id:
571798
dbSNP Id:
rs1300612017
gnomAD v2:
19-1399171-G-A
gnomAD v3:
19-1399172-G-A
gnomAD v4:
19-1399172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399172G>A , CM000681.2:g.1399172G>A | GRCh38 |
| NC_000019.9:g.1399171G>A , CM000681.1:g.1399171G>A | GRCh37 |
| NC_000019.8:g.1350171G>A | NCBI36 |
| NG_009785.1:g.7382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.415C>T MANE Select | ENSP00000252288.1:p.Leu139Phe | |
| ENST00000447102.8:c.415C>T | ENSP00000403536.2:p.Leu139Phe | |
| ENST00000591788.3:c.98C>T | ||
| ENST00000640164.1:n.248C>T | ||
| ENST00000640762.1:c.346C>T | ENSP00000492031.1:p.Leu116Phe | |
| ENST00000252288.6:c.415C>T | ENSP00000252288.1:p.Leu139Phe | |
| ENST00000447102.7:c.415C>T | ENSP00000403536.2:p.Leu139Phe | |
| ENST00000591788.2:c.100C>T | ENSP00000466341.2:p.Leu34Phe | |
| NM_000156.5:c.415C>T | NP_000147.1:p.Leu139Phe | |
| NM_138924.2:c.415C>T | NP_620279.1:p.Leu139Phe | |
| NM_000156.6:c.415C>T MANE Select | NP_000147.1:p.Leu139Phe | |
| NM_138924.3:c.415C>T | NP_620279.1:p.Leu139Phe |