Linked Data
dbSNP Id:
rs545270041
ExAC:
3:30648328 C / G
gnomAD v2:
3-30648328-C-G
gnomAD v3:
3-30606836-C-G
gnomAD v4:
3-30606836-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606836C>G , CM000665.2:g.30606836C>G | GRCh38 |
| NC_000003.11:g.30648328C>G , CM000665.1:g.30648328C>G | GRCh37 |
| NC_000003.10:g.30623332C>G | NCBI36 |
| NG_007490.1:g.5335C>G , LRG_779:g.5335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.-48C>G MANE Select | ENSP00000295754.5:n.-48C>G | |
| ENST00000295754.9:c.-48C>G | ENSP00000295754.5:n.-48C>G | |
| ENST00000359013.4:c.-48C>G | ENSP00000351905.4:n.-48C>G | |
| NM_001024847.2:c.-48C>G , LRG_779t1:c.-48C>G | NP_001020018.1:n.-48C>G | |
| NM_003242.5:c.-48C>G | NP_003233.4:n.-48C>G | |
| XM_011534045.1:c.-12+243C>G | XP_011532347.1:n.-12+243C>G | |
| XM_011534045.3:c.-12+243C>G | XP_011532347.1:n.-12+243C>G | |
| NM_003242.6:c.-48C>G MANE Select | NP_003233.4:n.-48C>G |