Linked Data
ClinVar Variation Id:
475534
dbSNP Id:
rs192262279
ExAC:
3:47165462 G / T
gnomAD v2:
3-47165462-G-T
gnomAD v3:
3-47123972-G-T
gnomAD v4:
3-47123972-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47123972G>T , CM000665.2:g.47123972G>T | GRCh38 |
| NC_000003.11:g.47165462G>T , CM000665.1:g.47165462G>T | GRCh37 |
| NC_000003.10:g.47140466G>T | NCBI36 |
| NG_032091.1:g.45006C>A , LRG_775:g.45006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.532C>A | ENSP00000491413.2:p.Leu178Ile | |
| ENST00000685005.1:c.565C>A | ENSP00000509568.1:p.Leu189Ile | |
| ENST00000691544.1:c.72-25891C>A | ENSP00000510710.1:n.72-25891C>A | |
| ENST00000409792.4:c.664C>A MANE Select | ENSP00000386759.3:p.Leu222Ile | |
| ENST00000330022.11:c.279C>A | ||
| ENST00000409792.3:c.664C>A | ENSP00000386759.3:p.Leu222Ile | |
| ENST00000412450.1:c.532C>A | ENSP00000416401.1:p.Leu178Ile | |
| NM_014159.6:c.664C>A , LRG_775t1:c.664C>A | NP_054878.5:p.Leu222Ile | |
| XM_011533631.1:c.742C>A | XP_011531933.1:p.Leu248Ile | |
| XM_011533632.1:c.688C>A | XP_011531934.1:p.Leu230Ile | |
| XM_011533633.1:c.742C>A | XP_011531935.1:p.Leu248Ile | |
| XM_011533634.1:c.532C>A | XP_011531936.1:p.Leu178Ile | |
| XR_940418.1:n.757C>A | ||
| XR_940419.1:n.845C>A | ||
| XR_940420.1:n.845C>A | ||
| NM_001349370.1:c.532C>A | NP_001336299.1:p.Leu178Ile | |
| NR_146158.1:n.717C>A | ||
| XM_011533632.3:c.688C>A | XP_011531934.1:p.Leu230Ile | |
| XM_024453487.1:c.532C>A | XP_024309255.1:p.Leu178Ile | |
| XM_024453488.1:c.532C>A | XP_024309256.1:p.Leu178Ile | |
| XM_024453489.1:c.532C>A | XP_024309257.1:p.Leu178Ile | |
| XR_001740131.2:n.717C>A | ||
| XR_002959510.1:n.593C>A | ||
| XR_002959511.1:n.593C>A | ||
| XR_002959512.1:n.593C>A | ||
| XR_002959513.1:n.593C>A | ||
| XR_002959514.1:n.593C>A | ||
| XR_002959515.1:n.593C>A | ||
| XR_002959516.1:n.593C>A | ||
| XR_002959517.1:n.593C>A | ||
| NM_001349370.2:c.532C>A | NP_001336299.1:p.Leu178Ile | |
| NR_146158.2:n.853C>A | ||
| NM_001349370.3:c.532C>A | NP_001336299.1:p.Leu178Ile | |
| NM_014159.7:c.664C>A MANE Select | NP_054878.5:p.Leu222Ile | |
| NR_146158.3:n.853C>A |