Linked Data
dbSNP Id:
rs767062512
ExAC:
22:42524254 T / C
gnomAD v2:
22-42524254-T-C
gnomAD v4:
22-42128252-T-C
MyVariant Identifiers:
chr22:g.42524254T>C (hg19)
chr22:g.42524254_42524257delinsCAGC (hg19)
chr22:g.42128252T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128252T>C , CM000684.2:g.42128252T>C | GRCh38 |
| NC_000022.10:g.42524254T>C , CM000684.1:g.42524254T>C | GRCh37 |
| NC_000022.9:g.40854198T>C | NCBI36 |
| NG_008376.3:g.6740A>G | |
| NG_008376.4:g.7559A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.612A>G | ENSP00000353241.6:p.Leu204= | |
| ENST00000645361.2:c.765A>G MANE Select | ENSP00000496150.1:p.Leu255= | |
| ENST00000359033.4:c.612A>G | ENSP00000351927.4:p.Leu204= | |
| ENST00000360124.9:c.432A>G | ENSP00000353241.5:p.Leu144= | |
| ENST00000360608.9:c.765A>G | ENSP00000353820.5:p.Leu255= | |
| ENST00000389970.7:c.699A>G | ENSP00000374620.4:p.Leu233= | |
| ENST00000488442.1:n.1489A>G | ||
| NM_000106.5:c.765A>G | NP_000097.3:p.Leu255= | |
| NM_001025161.2:c.612A>G | NP_001020332.2:p.Leu204= | |
| XM_011529966.1:c.765A>G | XP_011528268.1:p.Leu255= | |
| XM_011529967.1:c.765A>G | XP_011528269.1:p.Leu255= | |
| XM_011529968.1:c.765A>G | XP_011528270.1:p.Leu255= | |
| XM_011529969.1:c.621A>G | XP_011528271.1:p.Leu207= | |
| XM_011529970.1:c.612A>G | XP_011528272.1:p.Leu204= | |
| XM_011529971.1:c.621A>G | XP_011528273.1:p.Leu207= | |
| XM_011529972.1:c.765A>G | XP_011528274.1:p.Leu255= | |
| NM_000106.6:c.765A>G MANE Select | NP_000097.3:p.Leu255= | |
| NM_001025161.3:c.612A>G | NP_001020332.2:p.Leu204= |