Linked Data
dbSNP Id:
rs114694170
gnomAD v2:
5-88180196-T-C
gnomAD v3:
5-88884379-T-C
gnomAD v4:
5-88884379-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88884379T>C , CM000667.2:g.88884379T>C | GRCh38 |
| NC_000005.9:g.88180196T>C , CM000667.1:g.88180196T>C | GRCh37 |
| NC_000005.8:g.88215952T>C | NCBI36 |
| NG_023427.1:g.24727A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635837.1:n.137A>G (MEF2C) | ||
| ENST00000636061.1:n.9A>G (MEF2C) | ||
| ENST00000637663.1:n.347-1380A>G (MEF2C) | ||
| ENST00000340208.9:c.-143+3123A>G (MEF2C) | ENSP00000340874.5:n.-143+3123A>G | |
| ENST00000424173.6:c.-143+3123A>G (MEF2C) | ENSP00000389610.2:n.-143+3123A>G | |
| ENST00000502983.5:c.-143+110A>G (MEF2C) | ENSP00000427163.1:n.-143+110A>G | |
| ENST00000515093.1:n.371+3123A>G (MEF2C) | ||
| ENST00000625674.2:c.-140+3123A>G (MEF2C) | ENSP00000487430.1:n.-140+3123A>G | |
| ENST00000627659.2:c.-140+3123A>G (MEF2C) | ENSP00000486490.1:n.-140+3123A>G | |
| ENST00000629612.2:c.-140+3123A>G (MEF2C) | ENSP00000486554.1:n.-140+3123A>G | |
| NM_001131005.2:c.-143+3123A>G (MEF2C) | NP_001124477.1:n.-143+3123A>G | |
| NM_001193347.1:c.-143+3123A>G (MEF2C) | NP_001180276.1:n.-143+3123A>G | |
| NR_109941.1:n.156+894T>C (MEF2C-AS1) | ||
| XM_005248511.1:c.-143+110A>G (MEF2C) | XP_005248568.1:n.-143+110A>G | |
| XM_006714618.1:c.-140+3123A>G (MEF2C) | XP_006714681.1:n.-140+3123A>G | |
| XM_006714619.1:c.-140+3123A>G (MEF2C) | XP_006714682.1:n.-140+3123A>G | |
| XM_011543396.1:c.-143+3123A>G (MEF2C) | XP_011541698.1:n.-143+3123A>G | |
| NM_001364329.1:c.-140+3123A>G (MEF2C) | NP_001351258.1:n.-140+3123A>G | |
| NM_001364330.1:c.-143+3123A>G (MEF2C) | NP_001351259.1:n.-143+3123A>G | |
| NM_001364334.1:c.-140+3123A>G (MEF2C) | NP_001351263.1:n.-140+3123A>G | |
| NM_001364335.1:c.-143+110A>G (MEF2C) | NP_001351264.1:n.-143+110A>G | |
| NM_001364345.1:c.-143+110A>G (MEF2C) | NP_001351274.1:n.-143+110A>G | |
| NR_136218.1:n.156+894T>C (MEF2C-AS1) | ||
| NR_136219.1:n.156+894T>C (MEF2C-AS1) | ||
| XM_005248511.3:c.-143+110A>G (MEF2C) | XP_005248568.1:n.-143+110A>G | |
| XM_011543396.3:c.-143+3123A>G (MEF2C) | XP_011541698.1:n.-143+3123A>G | |
| NM_001364329.2:c.-140+3123A>G (MEF2C) | NP_001351258.1:n.-140+3123A>G | |
| NM_001364330.2:c.-143+3123A>G (MEF2C) | NP_001351259.1:n.-143+3123A>G | |
| NM_001364345.2:c.-143+110A>G (MEF2C) | NP_001351274.1:n.-143+110A>G | |
| NM_001364334.2:c.-140+3123A>G (MEF2C) | NP_001351263.1:n.-140+3123A>G | |
| NM_001364335.2:c.-143+110A>G (MEF2C) | NP_001351264.1:n.-143+110A>G |