Linked Data
dbSNP Id:
rs764822710
ExAC:
1:161514552 G / A
gnomAD v2:
1-161514552-G-A
gnomAD v4:
1-161544762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161544762G>A , CM000663.2:g.161544762G>A | GRCh38 |
| NC_000001.10:g.161514552G>A , CM000663.1:g.161514552G>A | GRCh37 |
| NC_000001.9:g.159781176G>A | NCBI36 |
| NG_009066.1:g.10862C>T , LRG_60:g.10862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367967.8:c.516C>T | ENSP00000356944.3:p.Cys172= | |
| ENST00000426740.8:c.513C>T | ENSP00000410180.3:p.Cys171= | |
| ENST00000436743.7:c.516C>T | ENSP00000416607.1:p.Cys172= | |
| ENST00000699395.1:c.516C>T | ENSP00000514356.1:p.Cys172= | |
| ENST00000699396.1:c.516C>T | ENSP00000514357.1:p.Cys172= | |
| ENST00000699397.1:c.516C>T | ENSP00000514358.1:p.Cys172= | |
| ENST00000699398.1:c.516C>T | ENSP00000514359.1:p.Cys172= | |
| ENST00000699399.1:c.465C>T | ENSP00000514360.1:p.Cys155= | |
| ENST00000699400.1:c.513C>T | ENSP00000514361.1:p.Cys171= | |
| ENST00000699401.1:c.516C>T | ENSP00000514362.1:p.Cys172= | |
| ENST00000426740.7:c.513C>T | ENSP00000410180.3:p.Cys171= | |
| ENST00000436743.6:c.516C>T | ENSP00000416607.1:p.Cys172= | |
| ENST00000443193.6:c.516C>T MANE Select | ENSP00000392047.2:p.Cys172= | |
| ENST00000367967.7:c.516C>T | ENSP00000356944.3:p.Cys172= | |
| ENST00000367969.7:c.624C>T | ENSP00000356946.3:p.Cys208= | |
| ENST00000426740.5:c.566C>T | ||
| ENST00000436743.5:c.516C>T | ENSP00000416607.1:p.Cys172= | |
| ENST00000443193.5:c.516C>T | ENSP00000392047.2:p.Cys172= | |
| NM_000569.6:c.624C>T | NP_000560.5:p.Cys208= | |
| NM_001127592.1:c.621C>T | NP_001121064.1:p.Cys207= | |
| NM_001127593.1:c.516C>T , LRG_60t1:c.516C>T | NP_001121065.1:p.Cys172= | |
| NM_001127595.1:c.516C>T | NP_001121067.1:p.Cys172= | |
| NM_001127596.1:c.513C>T | NP_001121068.1:p.Cys171= | |
| XM_011509293.1:c.428-1563C>T | XP_011507595.1:n.428-1563C>T | |
| NM_000569.7:c.831C>T | NP_000560.6:p.Cys277= | |
| NM_001127592.2:c.828C>T | NP_001121064.2:p.Cys276= | |
| NM_001329120.1:c.516C>T | NP_001316049.1:p.Cys172= | |
| NM_001329122.1:c.635-1563C>T | NP_001316051.1:n.635-1563C>T | |
| XM_024454064.1:c.513C>T | XP_024309832.1:p.Cys171= | |
| NM_001127595.2:c.516C>T | NP_001121067.1:p.Cys172= | |
| NM_001127596.2:c.513C>T | NP_001121068.1:p.Cys171= | |
| NM_000569.8:c.516C>T MANE Select | NP_000560.7:p.Cys172= | |
| NM_001329120.2:c.516C>T | NP_001316049.1:p.Cys172= | |
| NM_001386450.1:c.513C>T | NP_001373379.1:p.Cys171= |