Linked Data
dbSNP Id:
rs1162523536
gnomAD v2:
19-7998813-G-A
gnomAD v3:
19-7933928-G-A
gnomAD v4:
19-7933928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933928G>A , CM000681.2:g.7933928G>A | GRCh38 |
| NC_000019.9:g.7998813G>A , CM000681.1:g.7998813G>A | GRCh37 |
| NC_000019.8:g.7904813G>A | NCBI36 |
| NG_051180.1:g.14896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.619C>T MANE Select | ENSP00000270538.2:p.Leu207Phe | |
| ENST00000270538.7:c.619C>T | ENSP00000270538.2:p.Leu207Phe | |
| ENST00000595831.5:c.606C>T | ||
| ENST00000595876.5:c.*307C>T | ENSP00000471596.1:n.*307C>T | |
| ENST00000597926.1:c.523C>T | ENSP00000469389.1:p.Leu175Phe | |
| ENST00000598675.1:n.25C>T | ||
| ENST00000600748.5:n.604C>T | ||
| NM_006351.3:c.619C>T | NP_006342.2:p.Leu207Phe | |
| NM_006351.4:c.619C>T MANE Select | NP_006342.2:p.Leu207Phe |