Linked Data
dbSNP Id:
rs1422017355
gnomAD v2:
11-74204301-G-A
gnomAD v3:
11-74493256-G-A
gnomAD v4:
11-74493256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493256G>A , CM000673.2:g.74493256G>A | GRCh38 |
| NC_000011.9:g.74204301G>A , CM000673.1:g.74204301G>A | GRCh37 |
| NC_000011.8:g.73881949G>A | NCBI36 |
| NG_051333.1:g.5458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.448C>T MANE Select | ENSP00000309463.4:p.Arg150Cys | |
| ENST00000310109.4:c.448C>T | ENSP00000309463.4:p.Arg150Cys | |
| ENST00000527115.1:c.60C>T | ||
| ENST00000528085.1:c.181+211C>T | ||
| NM_001144869.1:c.448C>T | NP_001138341.1:p.Arg150Cys | |
| XM_011545021.1:c.448C>T | XP_011543323.1:p.Arg150Cys | |
| NM_001144869.2:c.448C>T | NP_001138341.1:p.Arg150Cys | |
| NM_001329941.1:c.448C>T | NP_001316870.1:p.Arg150Cys | |
| NM_001329942.1:c.237+211C>T | NP_001316871.1:n.237+211C>T | |
| NM_001144869.3:c.448C>T MANE Select | NP_001138341.1:p.Arg150Cys | |
| NM_001329941.2:c.448C>T | NP_001316870.1:p.Arg150Cys | |
| NM_001329942.2:c.237+211C>T | NP_001316871.1:n.237+211C>T |