Linked Data
ClinVar Variation Id:
43855
dbSNP Id:
rs8140958
ExAC:
22:38130472 T / C
gnomAD v2:
22-38130472-T-C
gnomAD v3:
22-37734465-T-C
gnomAD v4:
22-37734465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37734465T>C , CM000684.2:g.37734465T>C | GRCh38 |
| NC_000022.10:g.38130472T>C , CM000684.1:g.38130472T>C | GRCh37 |
| NC_000022.9:g.36460418T>C | NCBI36 |
| NG_012857.1:g.42478T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644935.1:c.4129T>C MANE Select | ENSP00000496394.1:p.Trp1377Arg | |
| ENST00000344404.10:c.*3612T>C | ENSP00000340312.6:n.*3612T>C | |
| ENST00000406386.7:c.4129T>C | ENSP00000384312.3:p.Trp1377Arg | |
| NM_001039141.2:c.4129T>C | NP_001034230.1:p.Trp1377Arg | |
| XM_011530646.1:c.512-4106A>G | XP_011528948.1:n.512-4106A>G | |
| NM_001039141.3:c.4129T>C MANE Select | NP_001034230.1:p.Trp1377Arg |