Linked Data
ClinVar Variation Id:
1384515
ClinVar RCV Id:
RCV001897641
dbSNP Id:
rs1553226912
gnomAD v2:
1-147230689-G-A
gnomAD v4:
1-147758581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758581G>A , CM000663.2:g.147758581G>A | GRCh38 |
| NC_000001.10:g.147230689G>A , CM000663.1:g.147230689G>A | GRCh37 |
| NC_000001.9:g.145697313G>A | NCBI36 |
| NG_009369.2:g.19794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.658C>T MANE Select | ENSP00000463851.1:p.Leu220Phe | |
| ENST00000430508.1:c.658C>T | ENSP00000407645.1:p.Leu220Phe | |
| ENST00000579774.2:c.658C>T | ENSP00000463851.1:p.Leu220Phe | |
| ENST00000621517.1:c.658C>T | ENSP00000484552.1:p.Leu220Phe | |
| NM_005266.6:c.658C>T | NP_005257.2:p.Leu220Phe | |
| NM_181703.3:c.658C>T | NP_859054.1:p.Leu220Phe | |
| XM_005272951.3:c.658C>T | XP_005273008.1:p.Leu220Phe | |
| XM_011509415.1:c.658C>T | XP_011507717.1:p.Leu220Phe | |
| XR_922078.1:n.434-18980G>A | ||
| XR_922079.1:n.434-18980G>A | ||
| XM_005272951.4:c.658C>T | XP_005273008.1:p.Leu220Phe | |
| XM_017001044.1:c.658C>T | XP_016856533.1:p.Leu220Phe | |
| XR_922079.3:n.744-18980G>A | ||
| NM_181703.4:c.658C>T MANE Select | NP_859054.1:p.Leu220Phe | |
| NM_005266.7:c.658C>T | NP_005257.2:p.Leu220Phe |