Linked Data
ClinVar Variation Id:
165609
dbSNP Id:
rs201724032
ExAC:
22:38161714 C / T
gnomAD v2:
22-38161714-C-T
gnomAD v3:
22-37765707-C-T
gnomAD v4:
22-37765707-C-T
PubMed:
PMID:27014650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37765707C>T , CM000684.2:g.37765707C>T | GRCh38 |
| NC_000022.10:g.38161714C>T , CM000684.1:g.38161714C>T | GRCh37 |
| NC_000022.9:g.36491660C>T | NCBI36 |
| NG_012857.1:g.73720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6362C>T MANE Select | ENSP00000496394.1:p.Ser2121Leu | |
| ENST00000344404.10:c.*5845C>T | ENSP00000340312.6:n.*5845C>T | |
| ENST00000403663.6:c.1223C>T | ENSP00000386026.2:p.Ser408Leu | |
| ENST00000406386.7:c.6362C>T | ENSP00000384312.3:p.Ser2121Leu | |
| NM_001039141.2:c.6362C>T | NP_001034230.1:p.Ser2121Leu | |
| NM_007032.5:c.1223C>T | NP_008963.3:p.Ser408Leu | |
| NM_001039141.3:c.6362C>T MANE Select | NP_001034230.1:p.Ser2121Leu |