Linked Data
ClinVar Variation Id:
2594187
ClinVar RCV Id:
RCV004340154
dbSNP Id:
rs200810054
ExAC:
17:67249997 G / A
gnomAD v2:
17-67249997-G-A
gnomAD v3:
17-69253856-G-A
gnomAD v4:
17-69253856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69253856G>A , CM000679.2:g.69253856G>A | GRCh38 |
| NC_000017.10:g.67249997G>A , CM000679.1:g.67249997G>A | GRCh37 |
| NC_000017.9:g.64761592G>A | NCBI36 |
| NG_034199.1:g.78327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392676.8:c.4258C>T MANE Select | ENSP00000376443.2:p.Leu1420Phe | |
| ENST00000392676.7:c.4258C>T | ENSP00000376443.2:p.Leu1420Phe | |
| ENST00000586811.1:c.1156C>T | ENSP00000465351.1:p.Leu386Phe | |
| ENST00000586995.5:c.3320C>T | ENSP00000467251.1:n.3320C>T | |
| ENST00000588877.5:c.4258C>T | ENSP00000467882.1:p.Leu1420Phe | |
| ENST00000591234.5:c.2200C>T | ENSP00000465766.1:n.2200C>T | |
| NM_018672.4:c.4258C>T | NP_061142.2:p.Leu1420Phe | |
| NM_172232.3:c.4258C>T | NP_758424.1:p.Leu1420Phe | |
| NM_172232.4:c.4258C>T MANE Select | NP_758424.1:p.Leu1420Phe | |
| NM_018672.5:c.4258C>T | NP_061142.2:p.Leu1420Phe |