Linked Data
dbSNP Id:
rs146540061
ExAC:
22:42524341 A / G
gnomAD v2:
22-42524341-A-G
gnomAD v3:
22-42128339-A-G
gnomAD v4:
22-42128339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128339A>G , CM000684.2:g.42128339A>G | GRCh38 |
| NC_000022.10:g.42524341A>G , CM000684.1:g.42524341A>G | GRCh37 |
| NC_000022.9:g.40854285A>G | NCBI36 |
| NG_008376.3:g.6653T>C | |
| NG_008376.4:g.7472T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.525T>C | ENSP00000353241.6:p.Ala175= | |
| ENST00000645361.2:c.678T>C MANE Select | ENSP00000496150.1:p.Ala226= | |
| ENST00000359033.4:c.525T>C | ENSP00000351927.4:p.Ala175= | |
| ENST00000360124.9:c.345T>C | ENSP00000353241.5:p.Ala115= | |
| ENST00000360608.9:c.678T>C | ENSP00000353820.5:p.Ala226= | |
| ENST00000389970.7:c.612T>C | ENSP00000374620.4:p.Ala204= | |
| ENST00000488442.1:n.1402T>C | ||
| NM_000106.5:c.678T>C | NP_000097.3:p.Ala226= | |
| NM_001025161.2:c.525T>C | NP_001020332.2:p.Ala175= | |
| XM_011529966.1:c.678T>C | XP_011528268.1:p.Ala226= | |
| XM_011529967.1:c.678T>C | XP_011528269.1:p.Ala226= | |
| XM_011529968.1:c.678T>C | XP_011528270.1:p.Ala226= | |
| XM_011529969.1:c.534T>C | XP_011528271.1:p.Ala178= | |
| XM_011529970.1:c.525T>C | XP_011528272.1:p.Ala175= | |
| XM_011529971.1:c.534T>C | XP_011528273.1:p.Ala178= | |
| XM_011529972.1:c.678T>C | XP_011528274.1:p.Ala226= | |
| NM_000106.6:c.678T>C MANE Select | NP_000097.3:p.Ala226= | |
| NM_001025161.3:c.525T>C | NP_001020332.2:p.Ala175= |