Linked Data
ClinVar Variation Id:
135235
dbSNP Id:
rs76208147
ExAC:
3:47162886 C / T
gnomAD v2:
3-47162886-C-T
gnomAD v3:
3-47121396-C-T
gnomAD v4:
3-47121396-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47121396C>T , CM000665.2:g.47121396C>T | GRCh38 |
| NC_000003.11:g.47162886C>T , CM000665.1:g.47162886C>T | GRCh37 |
| NC_000003.10:g.47137890C>T | NCBI36 |
| NG_032091.1:g.47582G>A , LRG_775:g.47582G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638947.2:c.3108G>A | ENSP00000491413.2:p.Met1036Ile | |
| ENST00000685005.1:c.3141G>A | ENSP00000509568.1:p.Met1047Ile | |
| ENST00000685399.1:c.1120G>A | ||
| ENST00000685505.1:c.1181G>A | ||
| ENST00000686773.1:c.1120G>A | ||
| ENST00000686876.1:c.256G>A | ||
| ENST00000688290.1:c.1120G>A | ||
| ENST00000690157.1:c.256G>A | ||
| ENST00000690461.1:c.1404G>A | ENSP00000509352.1:p.Met468Ile | |
| ENST00000691544.1:c.72-23315G>A | ENSP00000510710.1:n.72-23315G>A | |
| ENST00000691902.1:c.256G>A | ||
| ENST00000692883.1:c.1181G>A | ||
| ENST00000693321.1:c.1120G>A | ||
| ENST00000409792.4:c.3240G>A MANE Select | ENSP00000386759.3:p.Met1080Ile | |
| ENST00000330022.11:c.2855G>A | ||
| ENST00000409792.3:c.3240G>A | ENSP00000386759.3:p.Met1080Ile | |
| ENST00000412450.1:c.3108G>A | ENSP00000416401.1:p.Met1036Ile | |
| ENST00000431180.5:c.2392G>A | ||
| ENST00000445387.5:c.2140G>A | ||
| NM_014159.6:c.3240G>A , LRG_775t1:c.3240G>A | NP_054878.5:p.Met1080Ile | |
| XM_011533631.1:c.3318G>A | XP_011531933.1:p.Met1106Ile | |
| XM_011533632.1:c.3264G>A | XP_011531934.1:p.Met1088Ile | |
| XM_011533633.1:c.3318G>A | XP_011531935.1:p.Met1106Ile | |
| XM_011533634.1:c.3108G>A | XP_011531936.1:p.Met1036Ile | |
| XR_940418.1:n.3333G>A | ||
| XR_940419.1:n.3421G>A | ||
| XR_940420.1:n.3421G>A | ||
| NM_001349370.1:c.3108G>A | NP_001336299.1:p.Met1036Ile | |
| NR_146158.1:n.3293G>A | ||
| XM_011533632.3:c.3264G>A | XP_011531934.1:p.Met1088Ile | |
| XM_024453487.1:c.3108G>A | XP_024309255.1:p.Met1036Ile | |
| XM_024453488.1:c.3108G>A | XP_024309256.1:p.Met1036Ile | |
| XM_024453489.1:c.3108G>A | XP_024309257.1:p.Met1036Ile | |
| XR_001740131.2:n.3293G>A | ||
| XR_002959510.1:n.3169G>A | ||
| XR_002959511.1:n.3169G>A | ||
| XR_002959512.1:n.3169G>A | ||
| XR_002959513.1:n.3169G>A | ||
| XR_002959514.1:n.3169G>A | ||
| XR_002959515.1:n.3169G>A | ||
| XR_002959516.1:n.3169G>A | ||
| XR_002959517.1:n.3169G>A | ||
| NM_001349370.2:c.3108G>A | NP_001336299.1:p.Met1036Ile | |
| NR_146158.2:n.3429G>A | ||
| NM_001349370.3:c.3108G>A | NP_001336299.1:p.Met1036Ile | |
| NM_014159.7:c.3240G>A MANE Select | NP_054878.5:p.Met1080Ile | |
| NR_146158.3:n.3429G>A |