Linked Data
dbSNP Id:
rs2153021995
gnomAD v4:
4-1001713-T-G
MyVariant Identifiers:
chr4:g.995501T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001713T>G , CM000666.2:g.1001713T>G | GRCh38 |
| NC_000004.11:g.995501T>G , CM000666.1:g.995501T>G | GRCh37 |
| NC_000004.10:g.985501T>G | NCBI36 |
| NG_008103.1:g.19717T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.624T>G | ENSP00000247933.4:p.Gly208= | |
| ENST00000514224.2:c.624T>G MANE Select | ENSP00000425081.2:p.Gly208= | |
| ENST00000652070.1:n.680T>G | ||
| ENST00000247933.8:c.624T>G | ENSP00000247933.4:p.Gly208= | |
| ENST00000502910.5:c.483T>G | ENSP00000422952.1:p.Gly161= | |
| ENST00000504568.5:c.584T>G | ||
| ENST00000509948.5:c.417T>G | ENSP00000424227.1:p.Gly139= | |
| ENST00000514192.5:c.441T>G | ENSP00000423685.1:p.Gly147= | |
| ENST00000514224.1:c.228T>G | ENSP00000425081.1:p.Gly76= | |
| ENST00000514698.5:n.524T>G | ||
| NM_000203.4:c.624T>G | NP_000194.2:p.Gly208= | |
| NR_110313.1:n.712T>G | ||
| XM_006713882.2:c.228T>G | XP_006713945.1:p.Gly76= | |
| XM_011513459.1:c.483T>G | XP_011511761.1:p.Gly161= | |
| XM_011513460.1:c.483T>G | XP_011511762.1:p.Gly161= | |
| XM_011513461.1:c.417T>G | XP_011511763.1:p.Gly139= | |
| XM_011513462.1:c.336T>G | XP_011511764.1:p.Gly112= | |
| XM_011513463.1:c.336T>G | XP_011511765.1:p.Gly112= | |
| XR_924947.1:n.693T>G | ||
| NM_000203.5:c.624T>G MANE Select | NP_000194.2:p.Gly208= | |
| NM_001363576.1:c.228T>G | NP_001350505.1:p.Gly76= | |
| XM_011513461.2:c.417T>G | XP_011511763.1:p.Gly139= | |
| XM_017008163.1:c.-337T>G | XP_016863652.1:n.-337T>G |