Linked Data
ClinVar Variation Id:
40520
dbSNP Id:
rs397507525
gnomAD v2:
12-112910772-C-T
gnomAD v3:
12-112472968-C-T
gnomAD v4:
12-112472968-C-T
ERepo:
CA235373/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112472968C>T , CM000674.2:g.112472968C>T | GRCh38 |
| NC_000012.11:g.112910772C>T , CM000674.1:g.112910772C>T | GRCh37 |
| NC_000012.10:g.111395155C>T | NCBI36 |
| NG_007459.1:g.59237C>T , LRG_614:g.59237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.781C>T | ENSP00000491593.2:p.Leu261Phe | |
| ENST00000685487.1:c.781C>T | ENSP00000508503.1:p.Leu261Phe | |
| ENST00000687906.1:c.667C>T | ENSP00000509536.1:p.Leu223Phe | |
| ENST00000688597.1:c.781C>T | ENSP00000510628.1:p.Leu261Phe | |
| ENST00000690210.1:c.781C>T | ENSP00000509272.1:p.Leu261Phe | |
| ENST00000692624.1:c.781C>T | ENSP00000508953.1:p.Leu261Phe | |
| ENST00000351677.7:c.781C>T MANE Select | ENSP00000340944.3:p.Leu261Phe | |
| ENST00000351677.6:c.781C>T | ENSP00000340944.2:p.Leu261Phe | |
| ENST00000392597.5:c.781C>T | ENSP00000376376.1:p.Leu261Phe | |
| ENST00000635625.1:c.781C>T | ENSP00000489597.1:p.Leu261Phe | |
| NM_002834.3:c.781C>T , LRG_614t1:c.781C>T | NP_002825.3:p.Leu261Phe | |
| NM_080601.1:c.781C>T | NP_542168.1:p.Leu261Phe | |
| XM_006719526.1:c.781C>T | XP_006719589.1:p.Leu261Phe | |
| XM_006719527.1:c.667C>T | XP_006719590.1:p.Leu223Phe | |
| XM_011538613.1:c.778C>T | XP_011536915.1:p.Leu260Phe | |
| NM_001330437.1:c.781C>T | NP_001317366.1:p.Leu261Phe | |
| NM_002834.4:c.781C>T | NP_002825.3:p.Leu261Phe | |
| NM_080601.2:c.781C>T | NP_542168.1:p.Leu261Phe | |
| XM_011538613.2:c.778C>T | XP_011536915.1:p.Leu260Phe | |
| XM_017019722.1:c.778C>T | XP_016875211.1:p.Leu260Phe | |
| NM_001330437.2:c.781C>T | NP_001317366.1:p.Leu261Phe | |
| NM_001374625.1:c.778C>T | NP_001361554.1:p.Leu260Phe | |
| NM_002834.5:c.781C>T MANE Select | NP_002825.3:p.Leu261Phe | |
| NM_080601.3:c.781C>T | NP_542168.1:p.Leu261Phe |