Linked Data
dbSNP Id:
rs770502019
ExAC:
22:23915443 G / C
gnomAD v2:
22-23915443-G-C
gnomAD v3:
22-23573256-G-C
gnomAD v4:
22-23573256-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573256G>C , CM000684.2:g.23573256G>C | GRCh38 |
| NC_000022.10:g.23915443G>C , CM000684.1:g.23915443G>C | GRCh37 |
| NC_000022.9:g.22245443G>C | NCBI36 |
| NG_009791.1:g.12053C>G , LRG_69:g.12053C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.*10C>G MANE Select | ENSP00000329312.2:n.*10C>G | |
| ENST00000249053.3:c.*281C>G | ENSP00000249053.3:n.*281C>G | |
| ENST00000330377.2:c.*10C>G | ENSP00000329312.2:n.*10C>G | |
| NM_020070.3:c.*10C>G | NP_064455.1:n.*10C>G | |
| NM_152855.2:c.*281C>G | NP_690594.1:n.*281C>G | |
| XM_011530169.1:c.*10C>G | XP_011528471.1:n.*10C>G | |
| XM_011530169.2:c.*10C>G | XP_011528471.1:n.*10C>G | |
| NM_020070.4:c.*10C>G MANE Select | NP_064455.1:n.*10C>G | |
| NM_001369906.1:c.*10C>G | NP_001356835.1:n.*10C>G | |
| NM_152855.3:c.*281C>G | NP_690594.1:n.*281C>G |