Linked Data
dbSNP Id:
rs1359337943
gnomAD v2:
22-38109401-A-T
gnomAD v3:
22-37713394-A-T
gnomAD v4:
22-37713394-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37713394A>T , CM000684.2:g.37713394A>T | GRCh38 |
| NC_000022.10:g.38109401A>T , CM000684.1:g.38109401A>T | GRCh37 |
| NC_000022.9:g.36439347A>T | NCBI36 |
| NG_012857.1:g.21407A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.439A>T MANE Select | ENSP00000496394.1:p.Ser147Cys | |
| ENST00000344404.10:c.255-2369A>T | ENSP00000340312.6:n.255-2369A>T | |
| ENST00000406386.7:c.439A>T | ENSP00000384312.3:p.Ser147Cys | |
| ENST00000455236.4:c.1396A>T | ENSP00000477208.1:n.1396A>T | |
| ENST00000492485.5:n.391-2369A>T | ||
| NM_001039141.2:c.439A>T | NP_001034230.1:p.Ser147Cys | |
| NM_001039141.3:c.439A>T MANE Select | NP_001034230.1:p.Ser147Cys |