Linked Data
dbSNP Id:
rs142410496
ExAC:
12:56350921 A / G
gnomAD v2:
12-56350921-A-G
gnomAD v3:
12-55957137-A-G
gnomAD v4:
12-55957137-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55957137A>G , CM000674.2:g.55957137A>G | GRCh38 |
| NC_000012.11:g.56350921A>G , CM000674.1:g.56350921A>G | GRCh37 |
| NC_000012.10:g.54637188A>G | NCBI36 |
| NG_028086.1:g.14576T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548747.6:c.1166T>C MANE Select | ENSP00000448828.1:p.Leu389Pro | |
| ENST00000449260.6:c.1166T>C | ENSP00000402758.2:p.Leu389Pro | |
| ENST00000547137.5:c.1004T>C | ENSP00000448849.1:p.Leu335Pro | |
| ENST00000548493.5:c.1166T>C | ENSP00000447374.1:p.Leu389Pro | |
| ENST00000548747.5:c.1166T>C | ENSP00000448828.1:p.Leu389Pro | |
| ENST00000548803.5:c.670+49T>C | ENSP00000447732.1:n.670+49T>C | |
| ENST00000549404.5:c.779+49T>C | ||
| ENST00000549564.1:n.206T>C | ||
| ENST00000550447.5:c.359-1274T>C | ENSP00000448029.1:n.359-1274T>C | |
| ENST00000550464.5:c.908T>C | ENSP00000450036.1:p.Leu303Pro | |
| ENST00000552882.5:c.1166T>C | ENSP00000449690.1:p.Leu389Pro | |
| NM_001200053.1:c.908T>C | NP_001186982.1:p.Leu303Pro | |
| NM_001200054.1:c.1166T>C | NP_001186983.1:p.Leu389Pro | |
| NM_006928.4:c.1166T>C | NP_008859.1:p.Leu389Pro | |
| XM_006719569.1:c.1166T>C | XP_006719632.1:p.Leu389Pro | |
| XM_011538685.1:c.1166T>C | XP_011536987.1:p.Leu389Pro | |
| XM_011538686.1:c.1117+49T>C | XP_011536988.1:n.1117+49T>C | |
| XM_011538687.1:c.1117+49T>C | XP_011536989.1:n.1117+49T>C | |
| NM_001320121.1:c.1117+49T>C | NP_001307050.1:n.1117+49T>C | |
| NM_001320122.1:c.1117+49T>C | NP_001307051.1:n.1117+49T>C | |
| NM_001384361.1:c.1166T>C MANE Select | NP_001371290.1:p.Leu389Pro | |
| NM_006928.5:c.1166T>C | NP_008859.1:p.Leu389Pro |