Linked Data
dbSNP Id:
rs1453791831
gnomAD v3:
22-42128707-C-T
gnomAD v4:
22-42128707-C-T
MyVariant Identifiers:
chr22:g.42128707C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128707C>T , CM000684.2:g.42128707C>T | GRCh38 |
| NC_000022.10:g.42524709C>T , CM000684.1:g.42524709C>T | GRCh37 |
| NC_000022.9:g.40854653C>T | NCBI36 |
| NG_008376.3:g.6285G>A | |
| NG_008376.4:g.7104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.513+77G>A | ENSP00000353241.6:n.513+77G>A | |
| ENST00000645361.2:c.666+77G>A MANE Select | ENSP00000496150.1:n.666+77G>A | |
| ENST00000359033.4:c.513+77G>A | ENSP00000351927.4:n.513+77G>A | |
| ENST00000360124.9:c.333+77G>A | ENSP00000353241.5:n.333+77G>A | |
| ENST00000360608.9:c.666+77G>A | ENSP00000353820.5:n.666+77G>A | |
| ENST00000389970.7:c.600+77G>A | ENSP00000374620.4:n.600+77G>A | |
| ENST00000488442.1:n.1390+77G>A | ||
| NM_000106.5:c.666+77G>A | NP_000097.3:n.666+77G>A | |
| NM_001025161.2:c.513+77G>A | NP_001020332.2:n.513+77G>A | |
| XM_011529966.1:c.666+77G>A | XP_011528268.1:n.666+77G>A | |
| XM_011529967.1:c.666+77G>A | XP_011528269.1:n.666+77G>A | |
| XM_011529968.1:c.666+77G>A | XP_011528270.1:n.666+77G>A | |
| XM_011529969.1:c.522+77G>A | XP_011528271.1:n.522+77G>A | |
| XM_011529970.1:c.513+77G>A | XP_011528272.1:n.513+77G>A | |
| XM_011529971.1:c.522+77G>A | XP_011528273.1:n.522+77G>A | |
| XM_011529972.1:c.666+77G>A | XP_011528274.1:n.666+77G>A | |
| NM_000106.6:c.666+77G>A MANE Select | NP_000097.3:n.666+77G>A | |
| NM_001025161.3:c.513+77G>A | NP_001020332.2:n.513+77G>A |