Linked Data
ClinVar Variation Id:
447239
dbSNP Id:
rs72466489
ExAC:
2:74598112 C / T
gnomAD v2:
2-74598112-C-T
gnomAD v3:
2-74370985-C-T
gnomAD v4:
2-74370985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74370985C>T , CM000664.2:g.74370985C>T | GRCh38 |
| NC_000002.11:g.74598112C>T , CM000664.1:g.74598112C>T | GRCh37 |
| NC_000002.10:g.74451620C>T | NCBI36 |
| NG_008735.2:g.26103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.837G>A | ENSP00000354791.4:p.Ala279= | |
| ENST00000628224.3:c.837G>A MANE Select | ENSP00000487279.2:p.Ala279= | |
| ENST00000680606.1:c.786G>A | ENSP00000505612.1:p.Ala262= | |
| ENST00000361874.7:c.837G>A | ENSP00000354791.3:p.Ala279= | |
| ENST00000394003.7:c.816G>A | ENSP00000377571.3:p.Ala272= | |
| ENST00000409240.5:c.726G>A | ENSP00000386406.1:p.Ala242= | |
| ENST00000409438.5:c.435G>A | ENSP00000387270.1:p.Ala145= | |
| ENST00000409567.7:c.777G>A | ENSP00000386843.3:p.Ala259= | |
| ENST00000409868.5:c.786G>A | ENSP00000387327.1:p.Ala262= | |
| ENST00000434055.5:c.726G>A | ENSP00000416711.1:p.Ala242= | |
| ENST00000466110.5:n.1058G>A | ||
| ENST00000470351.1:n.551G>A | ||
| ENST00000628224.2:c.786G>A | ENSP00000487279.1:p.Ala262= | |
| ENST00000633691.1:c.435G>A | ENSP00000487724.1:p.Ala145= | |
| NM_001135040.2:c.777G>A | NP_001128512.1:p.Ala259= | |
| NM_001135041.2:c.435G>A | NP_001128513.1:p.Ala145= | |
| NM_001190836.1:c.726G>A | NP_001177765.1:p.Ala242= | |
| NM_001190837.1:c.816G>A | NP_001177766.1:p.Ala272= | |
| NM_004082.4:c.837G>A | NP_004073.2:p.Ala279= | |
| NM_023019.3:c.435G>A | NP_075408.1:p.Ala145= | |
| NR_033935.1:n.1038G>A | ||
| NM_001135040.3:c.777G>A | NP_001128512.1:p.Ala259= | |
| NM_001135041.3:c.435G>A | NP_001128513.1:p.Ala145= | |
| NM_001190836.2:c.726G>A | NP_001177765.1:p.Ala242= | |
| NM_001190837.2:c.816G>A | NP_001177766.1:p.Ala272= | |
| NM_001378991.1:c.786G>A | NP_001365920.1:p.Ala262= | |
| NM_001378992.1:c.768G>A | NP_001365921.1:p.Ala256= | |
| NM_004082.5:c.837G>A MANE Select | NP_004073.2:p.Ala279= | |
| NM_023019.4:c.435G>A | NP_075408.1:p.Ala145= | |
| NR_033935.2:n.817G>A |