Linked Data
ClinVar Variation Id:
1663393
ClinVar RCV Id:
RCV002188485
dbSNP Id:
rs781906860
ExAC:
X:48369715 G / A
gnomAD v2:
X-48369715-G-A
gnomAD v3:
X-48511327-G-A
gnomAD v4:
X-48511327-G-A
COSMIC:
COSM1122062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48511327G>A , CM000685.2:g.48511327G>A | GRCh38 |
| NC_000023.10:g.48369715G>A , CM000685.1:g.48369715G>A | GRCh37 |
| NC_000023.9:g.48254659G>A | NCBI36 |
| NG_009278.1:g.7345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367574.9:c.169G>A | ENSP00000356546.6:p.Val57Met | |
| ENST00000537758.6:c.169G>A | ENSP00000446401.3:p.Val57Met | |
| ENST00000682661.1:n.328G>A | ||
| ENST00000683923.1:c.169G>A | ENSP00000506737.1:p.Val57Met | |
| ENST00000684722.1:n.351G>A | ||
| ENST00000326194.11:c.169G>A MANE Select | ENSP00000322304.6:p.Val57Met | |
| ENST00000485288.7:c.137-39G>A | ENSP00000420445.3:n.137-39G>A | |
| ENST00000326194.10:c.169G>A | ENSP00000322304.6:p.Val57Met | |
| ENST00000355092.4:c.34G>A | ENSP00000347207.4:p.Val12Met | |
| ENST00000355961.8:c.169G>A | ENSP00000348233.4:p.Val57Met | |
| ENST00000359882.8:c.169G>A | ENSP00000352946.4:p.Val57Met | |
| ENST00000361988.7:c.169G>A | ENSP00000354978.3:p.Val57Met | |
| ENST00000367574.8:c.169G>A | ENSP00000356546.5:p.Val57Met | |
| ENST00000470275.2:c.137-39G>A | ENSP00000418644.2:n.137-39G>A | |
| ENST00000472520.5:c.137-565G>A | ENSP00000419858.1:n.137-565G>A | |
| ENST00000485288.6:c.329-39G>A | ENSP00000420445.2:n.329-39G>A | |
| ENST00000486272.1:n.519G>A | ||
| ENST00000489940.5:c.169G>A | ENSP00000419212.1:p.Val57Met | |
| ENST00000491243.5:n.247-39G>A | ||
| ENST00000528612.5:c.137-39G>A | ENSP00000431224.1:n.137-39G>A | |
| ENST00000537758.5:c.169G>A | ENSP00000446401.2:p.Val57Met | |
| NM_001282167.1:c.-6-39G>A | NP_001269096.1:n.-6-39G>A | |
| NM_022825.3:c.169G>A | NP_073736.2:p.Val57Met | |
| NM_203473.2:c.169G>A | NP_982299.1:p.Val57Met | |
| NM_203474.1:c.169G>A | NP_982300.1:p.Val57Met | |
| NM_203475.2:c.169G>A | NP_982301.1:p.Val57Met | |
| XM_005272635.1:c.508G>A | XP_005272692.1:p.Val170Met | |
| XM_005272636.1:c.508G>A | XP_005272693.1:p.Val170Met | |
| XM_005272637.1:c.421G>A | XP_005272694.1:p.Val141Met | |
| XM_006724544.2:c.274G>A | XP_006724607.1:p.Val92Met | |
| XM_006724545.2:c.259-39G>A | XP_006724608.1:n.259-39G>A | |
| XM_006724546.2:c.169G>A | XP_006724609.1:p.Val57Met | |
| XM_006724547.1:c.-6-39G>A | XP_006724610.1:n.-6-39G>A | |
| XM_011543948.1:c.-6-39G>A | XP_011542250.1:n.-6-39G>A | |
| XM_024452425.1:c.508G>A | XP_024308193.1:p.Val170Met | |
| NM_001282167.2:c.-6-39G>A | NP_001269096.1:n.-6-39G>A | |
| NM_022825.4:c.169G>A | NP_073736.2:p.Val57Met | |
| NM_203473.3:c.169G>A | NP_982299.1:p.Val57Met | |
| NM_203475.3:c.169G>A MANE Select | NP_982301.1:p.Val57Met |