Linked Data
dbSNP Id:
rs537666833
ExAC:
10:3824027 A / G
gnomAD v2:
10-3824027-A-G
gnomAD v4:
10-3781835-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781835A>G , CM000672.2:g.3781835A>G | GRCh38 |
| NC_000010.10:g.3824027A>G , CM000672.1:g.3824027A>G | GRCh37 |
| NC_000010.9:g.3814027A>G | NCBI36 |
| NG_012277.1:g.8447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.482T>C MANE Select | ENSP00000419923.1:p.Leu161Pro | |
| ENST00000173785.4:n.217T>C | ||
| ENST00000380946.3:n.717T>C | ||
| ENST00000469435.1:c.482T>C | ENSP00000419079.1:p.Leu161Pro | |
| ENST00000497571.5:c.482T>C | ENSP00000419923.1:p.Leu161Pro | |
| ENST00000542957.1:c.482T>C | ENSP00000445301.1:p.Leu161Pro | |
| NM_001160124.1:c.482T>C | NP_001153596.1:p.Leu161Pro | |
| NM_001160125.1:c.482T>C | NP_001153597.1:p.Leu161Pro | |
| NM_001300.5:c.482T>C | NP_001291.3:p.Leu161Pro | |
| NR_027653.1:n.749T>C | ||
| NM_001300.6:c.482T>C MANE Select | NP_001291.3:p.Leu161Pro | |
| NM_001160124.2:c.482T>C | NP_001153596.1:p.Leu161Pro | |
| NR_027653.2:n.677T>C | ||
| NM_001160125.2:c.482T>C | NP_001153597.1:p.Leu161Pro |