Linked Data
dbSNP Id:
rs1440526469
gnomAD v2:
22-42522580-C-G
gnomAD v3:
22-42126578-C-G
gnomAD v4:
22-42126578-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126578C>G , CM000684.2:g.42126578C>G | GRCh38 |
| NC_000022.10:g.42522580C>G , CM000684.1:g.42522580C>G | GRCh37 |
| NC_000022.9:g.40852524C>G | NCBI36 |
| NG_008376.3:g.8414G>C | |
| NG_008376.4:g.9233G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1288G>C | ENSP00000353241.6:n.1288G>C | |
| ENST00000645361.2:c.1490G>C MANE Select | ENSP00000496150.1:p.Arg497Pro | |
| ENST00000359033.4:c.1337G>C | ENSP00000351927.4:p.Arg446Pro | |
| ENST00000360124.9:c.1108G>C | ENSP00000353241.5:n.1108G>C | |
| ENST00000360608.9:c.1490G>C | ENSP00000353820.5:p.Arg497Pro | |
| ENST00000389970.7:c.1481G>C | ENSP00000374620.4:p.Arg494Pro | |
| ENST00000488442.1:n.2214G>C | ||
| NM_000106.5:c.1490G>C | NP_000097.3:p.Arg497Pro | |
| NM_001025161.2:c.1337G>C | NP_001020332.2:p.Arg446Pro | |
| XM_011529966.1:c.1452+38G>C | XP_011528268.1:n.1452+38G>C | |
| XM_011529967.1:c.1452+38G>C | XP_011528269.1:n.1452+38G>C | |
| XM_011529968.1:c.1452+38G>C | XP_011528270.1:n.1452+38G>C | |
| XM_011529969.1:c.1308+38G>C | XP_011528271.1:n.1308+38G>C | |
| XM_011529970.1:c.1299+38G>C | XP_011528272.1:n.1299+38G>C | |
| XM_011529971.1:c.1346G>C | XP_011528273.1:p.Arg449Pro | |
| NM_000106.6:c.1490G>C MANE Select | NP_000097.3:p.Arg497Pro | |
| NM_001025161.3:c.1337G>C | NP_001020332.2:p.Arg446Pro |