Linked Data
ClinVar Variation Id:
461806
ClinVar RCV Id:
RCV001423309
dbSNP Id:
rs202201413
ExAC:
11:63884609 G / A
gnomAD v2:
11-63884609-G-A
gnomAD v3:
11-64117137-G-A
gnomAD v4:
11-64117137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64117137G>A , CM000673.2:g.64117137G>A | GRCh38 |
| NC_000011.9:g.63884609G>A , CM000673.1:g.63884609G>A | GRCh37 |
| NC_000011.8:g.63641185G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682287.1:c.870G>A (FLRT1) MANE Select | ENSP00000507207.1:p.Leu290= | |
| ENST00000255681.7:c.517+34102C>T (MACROD1) MANE Select | ENSP00000255681.6:n.517+34102C>T | |
| ENST00000675777.1:c.517+34102C>T (MACROD1) | ENSP00000502549.1:n.517+34102C>T | |
| ENST00000246841.3:c.870G>A (FLRT1) | ENSP00000246841.3:p.Leu290= | |
| ENST00000255681.6:c.517+34102C>T (MACROD1) | ENSP00000255681.6:n.517+34102C>T | |
| ENST00000542359.5:n.298+34102C>T (MACROD1) | ||
| ENST00000543422.5:n.81+9717C>T (MACROD1) | ||
| ENST00000545464.5:n.629+34102C>T (MACROD1) | ||
| NM_013280.4:c.870G>A (FLRT1) | NP_037412.2:p.Leu290= | |
| NM_014067.3:c.517+34102C>T (MACROD1) | NP_054786.2:n.517+34102C>T | |
| XM_005273861.1:c.870G>A (FLRT1) | XP_005273918.1:p.Leu290= | |
| XM_005273939.3:c.517+34102C>T (MACROD1) | XP_005273996.1:n.517+34102C>T | |
| XM_006718521.2:c.518-1151C>T (MACROD1) | XP_006718584.1:n.518-1151C>T | |
| XM_011544882.1:c.870G>A (FLRT1) | XP_011543184.1:p.Leu290= | |
| XM_011544883.1:c.870G>A (FLRT1) | XP_011543185.1:p.Leu290= | |
| XM_011544970.1:c.517+34102C>T (MACROD1) | XP_011543272.1:n.517+34102C>T | |
| XM_011544971.1:c.517+34102C>T (MACROD1) | XP_011543273.1:n.517+34102C>T | |
| XM_011544972.1:c.517+34102C>T (MACROD1) | XP_011543274.1:n.517+34102C>T | |
| XM_005273861.2:c.870G>A (FLRT1) | XP_005273918.1:p.Leu290= | |
| XM_005273939.4:c.517+34102C>T (MACROD1) | XP_005273996.1:n.517+34102C>T | |
| XM_006718521.3:c.518-1151C>T (MACROD1) | XP_006718584.1:n.518-1151C>T | |
| XM_011544883.2:c.870G>A (FLRT1) | XP_011543185.1:p.Leu290= | |
| XM_011544970.2:c.517+34102C>T (MACROD1) | XP_011543272.1:n.517+34102C>T | |
| XM_024448413.1:c.870G>A (FLRT1) | XP_024304181.1:p.Leu290= | |
| NM_014067.4:c.517+34102C>T (MACROD1) MANE Select | NP_054786.2:n.517+34102C>T | |
| NM_001384466.1:c.870G>A (FLRT1) | NP_001371395.1:p.Leu290= | |
| NM_013280.5:c.870G>A (FLRT1) MANE Select | NP_037412.2:p.Leu290= |