Linked Data
ClinVar Variation Id:
461801
dbSNP Id:
rs139768227
ExAC:
11:63883777 C / G
gnomAD v2:
11-63883777-C-G
gnomAD v3:
11-64116305-C-G
gnomAD v4:
11-64116305-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64116305C>G , CM000673.2:g.64116305C>G | GRCh38 |
| NC_000011.9:g.63883777C>G , CM000673.1:g.63883777C>G | GRCh37 |
| NC_000011.8:g.63640353C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682287.1:c.38C>G (FLRT1) MANE Select | ENSP00000507207.1:p.Thr13Arg | |
| ENST00000255681.7:c.517+34934G>C (MACROD1) MANE Select | ENSP00000255681.6:n.517+34934G>C | |
| ENST00000675777.1:c.517+34934G>C (MACROD1) | ENSP00000502549.1:n.517+34934G>C | |
| ENST00000246841.3:c.38C>G (FLRT1) | ENSP00000246841.3:p.Thr13Arg | |
| ENST00000255681.6:c.517+34934G>C (MACROD1) | ENSP00000255681.6:n.517+34934G>C | |
| ENST00000542359.5:n.298+34934G>C (MACROD1) | ||
| ENST00000543422.5:n.81+10549G>C (MACROD1) | ||
| ENST00000545464.5:n.629+34934G>C (MACROD1) | ||
| NM_013280.4:c.38C>G (FLRT1) | NP_037412.2:p.Thr13Arg | |
| NM_014067.3:c.517+34934G>C (MACROD1) | NP_054786.2:n.517+34934G>C | |
| XM_005273861.1:c.38C>G (FLRT1) | XP_005273918.1:p.Thr13Arg | |
| XM_005273939.3:c.517+34934G>C (MACROD1) | XP_005273996.1:n.517+34934G>C | |
| XM_006718521.2:c.518-319G>C (MACROD1) | XP_006718584.1:n.518-319G>C | |
| XM_011544882.1:c.38C>G (FLRT1) | XP_011543184.1:p.Thr13Arg | |
| XM_011544883.1:c.38C>G (FLRT1) | XP_011543185.1:p.Thr13Arg | |
| XM_011544970.1:c.517+34934G>C (MACROD1) | XP_011543272.1:n.517+34934G>C | |
| XM_011544971.1:c.517+34934G>C (MACROD1) | XP_011543273.1:n.517+34934G>C | |
| XM_011544972.1:c.517+34934G>C (MACROD1) | XP_011543274.1:n.517+34934G>C | |
| XM_005273861.2:c.38C>G (FLRT1) | XP_005273918.1:p.Thr13Arg | |
| XM_005273939.4:c.517+34934G>C (MACROD1) | XP_005273996.1:n.517+34934G>C | |
| XM_006718521.3:c.518-319G>C (MACROD1) | XP_006718584.1:n.518-319G>C | |
| XM_011544883.2:c.38C>G (FLRT1) | XP_011543185.1:p.Thr13Arg | |
| XM_011544970.2:c.517+34934G>C (MACROD1) | XP_011543272.1:n.517+34934G>C | |
| XM_024448413.1:c.38C>G (FLRT1) | XP_024304181.1:p.Thr13Arg | |
| NM_014067.4:c.517+34934G>C (MACROD1) MANE Select | NP_054786.2:n.517+34934G>C | |
| NM_001384466.1:c.38C>G (FLRT1) | NP_001371395.1:p.Thr13Arg | |
| NM_013280.5:c.38C>G (FLRT1) MANE Select | NP_037412.2:p.Thr13Arg |