Linked Data
dbSNP Id:
rs1135829
ExAC:
22:42523975 T / C
gnomAD v2:
22-42523975-T-C
gnomAD v3:
22-42127973-T-C
gnomAD v4:
22-42127973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127973T>C , CM000684.2:g.42127973T>C | GRCh38 |
| NC_000022.10:g.42523975T>C , CM000684.1:g.42523975T>C | GRCh37 |
| NC_000022.9:g.40853919T>C | NCBI36 |
| NG_008376.3:g.7019A>G | |
| NG_008376.4:g.7838A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.691-39A>G | ENSP00000353241.6:n.691-39A>G | |
| ENST00000645361.2:c.854A>G MANE Select | ENSP00000496150.1:p.Asn285Ser | |
| ENST00000359033.4:c.701A>G | ENSP00000351927.4:p.Asn234Ser | |
| ENST00000360124.9:c.511-39A>G | ENSP00000353241.5:n.511-39A>G | |
| ENST00000360608.9:c.854A>G | ENSP00000353820.5:p.Asn285Ser | |
| ENST00000389970.7:c.788A>G | ENSP00000374620.4:p.Asn263Ser | |
| ENST00000488442.1:n.1578A>G | ||
| NM_000106.5:c.854A>G | NP_000097.3:p.Asn285Ser | |
| NM_001025161.2:c.701A>G | NP_001020332.2:p.Asn234Ser | |
| XM_011529966.1:c.854A>G | XP_011528268.1:p.Asn285Ser | |
| XM_011529967.1:c.854A>G | XP_011528269.1:p.Asn285Ser | |
| XM_011529968.1:c.854A>G | XP_011528270.1:p.Asn285Ser | |
| XM_011529969.1:c.710A>G | XP_011528271.1:p.Asn237Ser | |
| XM_011529970.1:c.701A>G | XP_011528272.1:p.Asn234Ser | |
| XM_011529971.1:c.710A>G | XP_011528273.1:p.Asn237Ser | |
| XM_011529972.1:c.843+201A>G | XP_011528274.1:n.843+201A>G | |
| NM_000106.6:c.854A>G MANE Select | NP_000097.3:p.Asn285Ser | |
| NM_001025161.3:c.701A>G | NP_001020332.2:p.Asn234Ser |