Linked Data
dbSNP Id:
rs761531694
ExAC:
22:44342234 C / T
gnomAD v2:
22-44342234-C-T
gnomAD v3:
22-43946354-C-T
gnomAD v4:
22-43946354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946354C>T , CM000684.2:g.43946354C>T | GRCh38 |
| NC_000022.10:g.44342234C>T , CM000684.1:g.44342234C>T | GRCh37 |
| NC_000022.9:g.42673567C>T | NCBI36 |
| NG_008631.1:g.27616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1418C>T MANE Select | ENSP00000216180.3:p.Pro473Leu | |
| ENST00000216180.7:c.1418C>T | ENSP00000216180.3:p.Pro473Leu | |
| ENST00000406117.6:c.*849+1559C>T | ENSP00000384668.2:n.*849+1559C>T | |
| ENST00000423180.2:c.1406C>T | ENSP00000397987.2:p.Pro469Leu | |
| NM_025225.2:c.1418C>T | NP_079501.2:p.Pro473Leu | |
| NM_025225.3:c.1418C>T MANE Select | NP_079501.2:p.Pro473Leu |