Linked Data
ClinVar Variation Id:
228036
ClinVar RCV Id:
RCV000213426
dbSNP Id:
rs876657595
gnomAD v2:
22-38150897-C-T
gnomAD v3:
22-37754890-C-T
gnomAD v4:
22-37754890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37754890C>T , CM000684.2:g.37754890C>T | GRCh38 |
| NC_000022.10:g.38150897C>T , CM000684.1:g.38150897C>T | GRCh37 |
| NC_000022.9:g.36480843C>T | NCBI36 |
| NG_012857.1:g.62903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407319.7:c.254C>T | ENSP00000383913.2:p.Ser85Leu | |
| ENST00000644935.1:c.5393C>T MANE Select | ENSP00000496394.1:p.Ser1798Leu | |
| ENST00000331103.5:n.9C>T | ||
| ENST00000344404.10:c.*4876C>T | ENSP00000340312.6:n.*4876C>T | |
| ENST00000403663.6:c.254C>T | ENSP00000386026.2:p.Ser85Leu | |
| ENST00000406386.7:c.5393C>T | ENSP00000384312.3:p.Ser1798Leu | |
| ENST00000407319.6:c.254C>T | ENSP00000383913.2:p.Ser85Leu | |
| ENST00000413051.2:c.259C>T | ENSP00000400680.2:p.Arg87Cys | |
| ENST00000417857.1:c.41C>T | ENSP00000387881.1:p.Ser14Leu | |
| ENST00000418339.5:c.131C>T | ENSP00000396946.1:p.Ser44Leu | |
| ENST00000428075.5:c.209-211C>T | ||
| ENST00000452519.5:c.41C>T | ENSP00000407542.1:p.Ser14Leu | |
| NM_001039141.2:c.5393C>T | NP_001034230.1:p.Ser1798Leu | |
| NM_007032.5:c.254C>T | NP_008963.3:p.Ser85Leu | |
| NM_138632.2:c.254C>T | NP_619538.2:p.Ser85Leu | |
| NM_001039141.3:c.5393C>T MANE Select | NP_001034230.1:p.Ser1798Leu |