Linked Data
dbSNP Id:
rs1379698490
gnomAD v2:
10-3824123-G-C
gnomAD v3:
10-3781931-G-C
gnomAD v4:
10-3781931-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781931G>C , CM000672.2:g.3781931G>C | GRCh38 |
| NC_000010.10:g.3824123G>C , CM000672.1:g.3824123G>C | GRCh37 |
| NC_000010.9:g.3814123G>C | NCBI36 |
| NG_012277.1:g.8351C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.386C>G MANE Select | ENSP00000419923.1:p.Pro129Arg | |
| ENST00000173785.4:n.121C>G | ||
| ENST00000380946.3:n.621C>G | ||
| ENST00000469435.1:c.386C>G | ENSP00000419079.1:p.Pro129Arg | |
| ENST00000497571.5:c.386C>G | ENSP00000419923.1:p.Pro129Arg | |
| ENST00000542957.1:c.386C>G | ENSP00000445301.1:p.Pro129Arg | |
| NM_001160124.1:c.386C>G | NP_001153596.1:p.Pro129Arg | |
| NM_001160125.1:c.386C>G | NP_001153597.1:p.Pro129Arg | |
| NM_001300.5:c.386C>G | NP_001291.3:p.Pro129Arg | |
| NR_027653.1:n.653C>G | ||
| NM_001300.6:c.386C>G MANE Select | NP_001291.3:p.Pro129Arg | |
| NM_001160124.2:c.386C>G | NP_001153596.1:p.Pro129Arg | |
| NR_027653.2:n.581C>G | ||
| NM_001160125.2:c.386C>G | NP_001153597.1:p.Pro129Arg |