Linked Data
dbSNP Id:
rs1135840
gnomAD v4:
22-42126611-C-T
MyVariant Identifiers:
chr22:g.42126611C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126611C>T , CM000684.2:g.42126611C>T | GRCh38 |
| NG_008376.3:g.8381G>A | |
| NG_008376.4:g.9200G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1255G>A | ENSP00000353241.6:n.1255G>A | |
| ENST00000645361.2:c.1457G>A MANE Select | ENSP00000496150.1:p.Ser486Asn | |
| ENST00000359033.4:c.1304G>A | ENSP00000351927.4:p.Ser435Asn | |
| ENST00000360124.9:c.1075G>A | ENSP00000353241.5:n.1075G>A | |
| ENST00000360608.9:c.1457G>A | ENSP00000353820.5:p.Ser486Asn | |
| ENST00000389970.7:c.1448G>A | ENSP00000374620.4:p.Ser483Asn | |
| ENST00000488442.1:n.2181G>A | ||
| NM_000106.5:c.1457G>A | NP_000097.3:p.Ser486Asn | |
| NM_001025161.2:c.1304G>A | NP_001020332.2:p.Ser435Asn | |
| XM_011529966.1:c.1452+5G>A | XP_011528268.1:n.1452+5G>A | |
| XM_011529967.1:c.1452+5G>A | XP_011528269.1:n.1452+5G>A | |
| XM_011529968.1:c.1452+5G>A | XP_011528270.1:n.1452+5G>A | |
| XM_011529969.1:c.1308+5G>A | XP_011528271.1:n.1308+5G>A | |
| XM_011529970.1:c.1299+5G>A | XP_011528272.1:n.1299+5G>A | |
| XM_011529971.1:c.1313G>A | XP_011528273.1:p.Ser438Asn | |
| NM_000106.6:c.1457G>A MANE Select | NP_000097.3:p.Ser486Asn | |
| NM_001025161.3:c.1304G>A | NP_001020332.2:p.Ser435Asn |