Linked Data
ClinVar Variation Id:
530941
dbSNP Id:
rs138445479
ExAC:
11:63884859 G / C
gnomAD v2:
11-63884859-G-C
gnomAD v3:
11-64117387-G-C
gnomAD v4:
11-64117387-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64117387G>C , CM000673.2:g.64117387G>C | GRCh38 |
| NC_000011.9:g.63884859G>C , CM000673.1:g.63884859G>C | GRCh37 |
| NC_000011.8:g.63641435G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682287.1:c.1120G>C (FLRT1) MANE Select | ENSP00000507207.1:p.Glu374Gln | |
| ENST00000255681.7:c.517+33852C>G (MACROD1) MANE Select | ENSP00000255681.6:n.517+33852C>G | |
| ENST00000675777.1:c.517+33852C>G (MACROD1) | ENSP00000502549.1:n.517+33852C>G | |
| ENST00000246841.3:c.1120G>C (FLRT1) | ENSP00000246841.3:p.Glu374Gln | |
| ENST00000255681.6:c.517+33852C>G (MACROD1) | ENSP00000255681.6:n.517+33852C>G | |
| ENST00000542359.5:n.298+33852C>G (MACROD1) | ||
| ENST00000543422.5:n.81+9467C>G (MACROD1) | ||
| ENST00000545464.5:n.629+33852C>G (MACROD1) | ||
| NM_013280.4:c.1120G>C (FLRT1) | NP_037412.2:p.Glu374Gln | |
| NM_014067.3:c.517+33852C>G (MACROD1) | NP_054786.2:n.517+33852C>G | |
| XM_005273861.1:c.1120G>C (FLRT1) | XP_005273918.1:p.Glu374Gln | |
| XM_005273939.3:c.517+33852C>G (MACROD1) | XP_005273996.1:n.517+33852C>G | |
| XM_006718521.2:c.518-1401C>G (MACROD1) | XP_006718584.1:n.518-1401C>G | |
| XM_011544882.1:c.1120G>C (FLRT1) | XP_011543184.1:p.Glu374Gln | |
| XM_011544883.1:c.1120G>C (FLRT1) | XP_011543185.1:p.Glu374Gln | |
| XM_011544970.1:c.517+33852C>G (MACROD1) | XP_011543272.1:n.517+33852C>G | |
| XM_011544971.1:c.517+33852C>G (MACROD1) | XP_011543273.1:n.517+33852C>G | |
| XM_011544972.1:c.517+33852C>G (MACROD1) | XP_011543274.1:n.517+33852C>G | |
| XM_005273861.2:c.1120G>C (FLRT1) | XP_005273918.1:p.Glu374Gln | |
| XM_005273939.4:c.517+33852C>G (MACROD1) | XP_005273996.1:n.517+33852C>G | |
| XM_006718521.3:c.518-1401C>G (MACROD1) | XP_006718584.1:n.518-1401C>G | |
| XM_011544883.2:c.1120G>C (FLRT1) | XP_011543185.1:p.Glu374Gln | |
| XM_011544970.2:c.517+33852C>G (MACROD1) | XP_011543272.1:n.517+33852C>G | |
| XM_024448413.1:c.1120G>C (FLRT1) | XP_024304181.1:p.Glu374Gln | |
| NM_014067.4:c.517+33852C>G (MACROD1) MANE Select | NP_054786.2:n.517+33852C>G | |
| NM_001384466.1:c.1120G>C (FLRT1) | NP_001371395.1:p.Glu374Gln | |
| NM_013280.5:c.1120G>C (FLRT1) MANE Select | NP_037412.2:p.Glu374Gln |