Linked Data
ClinVar Variation Id:
40064
ClinVar RCV Id:
RCV000033154
dbSNP Id:
rs397515433
gnomAD v4:
5-59038869-G-A
PubMed:
PMID:23033274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59038869G>A , CM000667.2:g.59038869G>A | GRCh38 |
| NC_000005.9:g.58334696G>A , CM000667.1:g.58334696G>A | GRCh37 |
| NC_000005.8:g.58370453G>A | NCBI36 |
| NG_027957.1:g.1454230C>T | |
| NG_027957.2:g.1490461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.719C>T | ENSP00000424852.1:p.Ala240Val | |
| ENST00000340635.11:c.911C>T MANE Select | ENSP00000345502.6:p.Ala304Val | |
| ENST00000636120.1:c.581C>T | ENSP00000490821.1:p.Ala194Val | |
| ENST00000309641.10:c.763C>T | ENSP00000308485.6:n.763C>T | |
| ENST00000340635.10:c.911C>T | ENSP00000345502.6:p.Ala304Val | |
| ENST00000358923.10:c.5C>T | ENSP00000351800.6:p.Ala2Val | |
| ENST00000360047.9:c.503C>T | ENSP00000353152.5:p.Ala168Val | |
| ENST00000405053.7:n.472-45404C>T | ||
| ENST00000405755.6:c.545C>T | ENSP00000384806.2:p.Ala182Val | |
| ENST00000502484.6:c.728C>T | ENSP00000423094.2:p.Ala243Val | |
| ENST00000503258.5:c.521C>T | ENSP00000425605.1:p.Ala174Val | |
| ENST00000505453.1:c.5C>T | ENSP00000421013.1:p.Ala2Val | |
| ENST00000507116.5:c.719C>T | ENSP00000424852.1:p.Ala240Val | |
| ENST00000515011.5:n.647C>T | ||
| ENST00000546160.5:c.518C>T | ENSP00000442734.2:p.Ala173Val | |
| NM_001104631.1:c.911C>T | NP_001098101.1:p.Ala304Val | |
| NM_001165899.1:c.728C>T | NP_001159371.1:p.Ala243Val | |
| NM_001197218.1:c.719C>T | NP_001184147.1:p.Ala240Val | |
| NM_001197219.1:c.545C>T | NP_001184148.1:p.Ala182Val | |
| NM_001197220.1:c.521C>T | NP_001184149.1:p.Ala174Val | |
| NM_001197221.1:c.5C>T | NP_001184150.1:p.Ala2Val | |
| NM_001197222.1:c.239C>T | NP_001184151.1:p.Ala80Val | |
| NM_006203.4:c.503C>T | NP_006194.2:p.Ala168Val | |
| XM_005248537.2:c.581C>T | XP_005248594.1:p.Ala194Val | |
| XM_005248538.3:c.503C>T | XP_005248595.1:p.Ala168Val | |
| XM_011543469.1:c.875C>T | XP_011541771.1:p.Ala292Val | |
| XM_011543470.1:c.875C>T | XP_011541772.1:p.Ala292Val | |
| XM_011543471.1:c.728C>T | XP_011541773.1:p.Ala243Val | |
| XM_011543472.1:c.728C>T | XP_011541774.1:p.Ala243Val | |
| XM_011543473.1:c.728C>T | XP_011541775.1:p.Ala243Val | |
| XM_011543474.1:c.698C>T | XP_011541776.1:p.Ala233Val | |
| XM_011543475.1:c.545C>T | XP_011541777.1:p.Ala182Val | |
| XM_011543476.1:c.491C>T | XP_011541778.1:p.Ala164Val | |
| XM_011543477.1:c.470C>T | XP_011541779.1:p.Ala157Val | |
| XM_011543478.1:c.407C>T | XP_011541780.1:p.Ala136Val | |
| XM_011543479.1:c.407C>T | XP_011541781.1:p.Ala136Val | |
| XR_948360.1:n.838+3751G>A | ||
| NM_001349241.1:c.698C>T | NP_001336170.1:p.Ala233Val | |
| NM_001349242.1:c.581C>T | NP_001336171.1:p.Ala194Val | |
| NM_001349243.1:c.143C>T | NP_001336172.1:p.Ala48Val | |
| NM_001364599.1:c.728C>T | NP_001351528.1:p.Ala243Val | |
| NM_001364603.1:c.5C>T | NP_001351532.1:p.Ala2Val | |
| NM_001364604.1:c.143C>T | NP_001351533.1:p.Ala48Val | |
| XM_011543470.2:c.875C>T | XP_011541772.1:p.Ala292Val | |
| XM_011543471.2:c.728C>T | XP_011541773.1:p.Ala243Val | |
| XM_017009565.1:c.875C>T | XP_016865054.1:p.Ala292Val | |
| XM_017009566.1:c.728C>T | XP_016865055.1:p.Ala243Val | |
| XM_017009567.1:c.713C>T | XP_016865056.1:p.Ala238Val | |
| XM_024446110.1:c.875C>T | XP_024301878.1:p.Ala292Val | |
| XM_024446112.1:c.728C>T | XP_024301880.1:p.Ala243Val | |
| NM_001104631.2:c.911C>T MANE Select | NP_001098101.1:p.Ala304Val | |
| NM_001165899.2:c.728C>T | NP_001159371.1:p.Ala243Val | |
| NM_001197218.2:c.719C>T | NP_001184147.1:p.Ala240Val | |
| NM_001197219.2:c.545C>T | NP_001184148.1:p.Ala182Val | |
| NM_001197220.2:c.521C>T | NP_001184149.1:p.Ala174Val | |
| NM_001197221.2:c.5C>T | NP_001184150.1:p.Ala2Val | |
| NM_001197222.2:c.239C>T | NP_001184151.1:p.Ala80Val | |
| NM_001349241.2:c.698C>T | NP_001336170.1:p.Ala233Val | |
| NM_001349243.2:c.143C>T | NP_001336172.1:p.Ala48Val | |
| NM_001349242.2:c.581C>T | NP_001336171.1:p.Ala194Val | |
| NM_006203.5:c.503C>T | NP_006194.2:p.Ala168Val |