Linked Data
dbSNP Id:
rs778223742
ExAC:
22:42522546 G / C
gnomAD v2:
22-42522546-G-C
gnomAD v3:
22-42126544-G-C
gnomAD v4:
22-42126544-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126544G>C , CM000684.2:g.42126544G>C | GRCh38 |
| NC_000022.10:g.42522546G>C , CM000684.1:g.42522546G>C | GRCh37 |
| NC_000022.9:g.40852490G>C | NCBI36 |
| NG_008376.3:g.8448C>G | |
| NG_008376.4:g.9267C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1322C>G | ENSP00000353241.6:n.1322C>G | |
| ENST00000645361.2:c.*30C>G MANE Select | ENSP00000496150.1:n.*30C>G | |
| ENST00000360124.9:c.1142C>G | ENSP00000353241.5:n.1142C>G | |
| ENST00000360608.9:c.*30C>G | ENSP00000353820.5:n.*30C>G | |
| ENST00000389970.7:c.*30C>G | ENSP00000374620.4:n.*30C>G | |
| ENST00000488442.1:n.2248C>G | ||
| NM_000106.5:c.*30C>G | NP_000097.3:n.*30C>G | |
| NM_001025161.2:c.*30C>G | NP_001020332.2:n.*30C>G | |
| XM_011529966.1:c.1452+72C>G | XP_011528268.1:n.1452+72C>G | |
| XM_011529967.1:c.1452+72C>G | XP_011528269.1:n.1452+72C>G | |
| XM_011529968.1:c.1452+72C>G | XP_011528270.1:n.1452+72C>G | |
| XM_011529969.1:c.1308+72C>G | XP_011528271.1:n.1308+72C>G | |
| XM_011529970.1:c.1299+72C>G | XP_011528272.1:n.1299+72C>G | |
| XM_011529971.1:c.*30C>G | XP_011528273.1:n.*30C>G | |
| NM_000106.6:c.*30C>G MANE Select | NP_000097.3:n.*30C>G | |
| NM_001025161.3:c.*30C>G | NP_001020332.2:n.*30C>G |