Linked Data
dbSNP Id:
rs749000427
ExAC:
22:42522535 G / A
gnomAD v2:
22-42522535-G-A
gnomAD v4:
22-42126533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126533G>A , CM000684.2:g.42126533G>A | GRCh38 |
| NC_000022.10:g.42522535G>A , CM000684.1:g.42522535G>A | GRCh37 |
| NC_000022.9:g.40852479G>A | NCBI36 |
| NG_008376.3:g.8459C>T | |
| NG_008376.4:g.9278C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1333C>T | ENSP00000353241.6:n.1333C>T | |
| ENST00000645361.2:c.*41C>T MANE Select | ENSP00000496150.1:n.*41C>T | |
| ENST00000360124.9:c.1153C>T | ENSP00000353241.5:n.1153C>T | |
| ENST00000360608.9:c.*41C>T | ENSP00000353820.5:n.*41C>T | |
| ENST00000389970.7:c.*41C>T | ENSP00000374620.4:n.*41C>T | |
| NM_000106.5:c.*41C>T | NP_000097.3:n.*41C>T | |
| NM_001025161.2:c.*41C>T | NP_001020332.2:n.*41C>T | |
| XM_011529966.1:c.1452+83C>T | XP_011528268.1:n.1452+83C>T | |
| XM_011529967.1:c.1452+83C>T | XP_011528269.1:n.1452+83C>T | |
| XM_011529968.1:c.1452+83C>T | XP_011528270.1:n.1452+83C>T | |
| XM_011529969.1:c.1308+83C>T | XP_011528271.1:n.1308+83C>T | |
| XM_011529970.1:c.1299+83C>T | XP_011528272.1:n.1299+83C>T | |
| XM_011529971.1:c.*41C>T | XP_011528273.1:n.*41C>T | |
| NM_000106.6:c.*41C>T MANE Select | NP_000097.3:n.*41C>T | |
| NM_001025161.3:c.*41C>T | NP_001020332.2:n.*41C>T |