Linked Data
ClinVar Variation Id:
14751
dbSNP Id:
rs4880
ExAC:
6:160113872 A / G
gnomAD v2:
6-160113872-A-G
gnomAD v3:
6-159692840-A-G
gnomAD v4:
6-159692840-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159692840A>G , CM000668.2:g.159692840A>G | GRCh38 |
| NC_000006.11:g.160113872A>G , CM000668.1:g.160113872A>G | GRCh37 |
| NC_000006.10:g.160033862A>G | NCBI36 |
| NG_008729.1:g.5482T>C | |
| NG_008729.3:g.74690T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538183.7:c.47T>C MANE Select | ENSP00000446252.1:p.Val16Ala | |
| ENST00000337404.8:c.47T>C | ENSP00000337127.4:p.Val16Ala | |
| ENST00000367054.6:c.47T>C | ENSP00000356021.2:p.Val16Ala | |
| ENST00000367055.8:c.47T>C | ENSP00000356022.4:p.Val16Ala | |
| ENST00000401980.3:c.-92T>C | ENSP00000384196.3:n.-92T>C | |
| ENST00000444946.6:c.47T>C | ENSP00000404804.2:p.Val16Ala | |
| ENST00000452684.2:c.47T>C | ENSP00000406713.2:p.Val16Ala | |
| ENST00000535561.5:c.116T>C | ENSP00000445015.1:p.Val39Ala | |
| ENST00000537657.5:c.-92T>C | ENSP00000439191.1:n.-92T>C | |
| ENST00000538183.6:c.47T>C | ENSP00000446252.1:p.Val16Ala | |
| ENST00000545162.5:c.116T>C | ENSP00000441362.1:p.Val39Ala | |
| ENST00000546087.5:c.-92T>C | ENSP00000442920.1:n.-92T>C | |
| ENST00000546260.5:c.47T>C | ENSP00000440131.1:p.Val16Ala | |
| NM_000636.2:c.47T>C | NP_000627.2:p.Val16Ala | |
| NM_001024465.1:c.47T>C | NP_001019636.1:p.Val16Ala | |
| NM_001024466.1:c.47T>C | NP_001019637.1:p.Val16Ala | |
| NM_000636.3:c.47T>C | NP_000627.2:p.Val16Ala | |
| NM_001024465.2:c.47T>C | NP_001019636.1:p.Val16Ala | |
| NM_001024466.2:c.47T>C | NP_001019637.1:p.Val16Ala | |
| NM_001322814.1:c.47T>C | NP_001309743.1:p.Val16Ala | |
| NM_001322815.1:c.47T>C | NP_001309744.1:p.Val16Ala | |
| NM_001322816.1:c.47T>C | NP_001309745.1:p.Val16Ala | |
| NM_001322817.1:c.-92T>C | NP_001309746.1:n.-92T>C | |
| NM_001322819.1:c.-92T>C | NP_001309748.1:n.-92T>C | |
| NM_001322820.1:c.-92T>C | NP_001309749.1:n.-92T>C | |
| NM_000636.4:c.47T>C MANE Select | NP_000627.2:p.Val16Ala | |
| NM_001024465.3:c.47T>C | NP_001019636.1:p.Val16Ala | |
| NM_001024466.3:c.47T>C | NP_001019637.1:p.Val16Ala | |
| NM_001322814.2:c.47T>C | NP_001309743.1:p.Val16Ala | |
| NM_001322815.2:c.47T>C | NP_001309744.1:p.Val16Ala | |
| NM_001322817.2:c.-92T>C | NP_001309746.1:n.-92T>C | |
| NM_001322819.2:c.-92T>C | NP_001309748.1:n.-92T>C | |
| NM_001322820.2:c.-92T>C | NP_001309749.1:n.-92T>C | |
| NM_001322816.2:c.47T>C | NP_001309745.1:p.Val16Ala |