Linked Data
ClinVar Variation Id:
1476649
ClinVar RCV Id:
RCV001978056
dbSNP Id:
rs1403371346
gnomAD v2:
4-88929451-G-C
gnomAD v4:
4-88008299-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008299G>C , CM000666.2:g.88008299G>C | GRCh38 |
| NC_000004.11:g.88929451G>C , CM000666.1:g.88929451G>C | GRCh37 |
| NC_000004.10:g.89148475G>C | NCBI36 |
| NG_008604.1:g.5632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.566G>C MANE Select | ENSP00000237596.2:p.Trp189Ser | |
| ENST00000237596.6:c.566G>C | ENSP00000237596.2:p.Trp189Ser | |
| ENST00000506727.1:n.68G>C | ||
| NM_000297.3:c.566G>C | NP_000288.1:p.Trp189Ser | |
| XM_011532028.1:c.566G>C | XP_011530330.1:p.Trp189Ser | |
| XR_244632.2:n.661G>C | ||
| NR_156488.1:n.653G>C | ||
| XM_011532028.2:c.566G>C | XP_011530330.1:p.Trp189Ser | |
| NM_000297.4:c.566G>C MANE Select | NP_000288.1:p.Trp189Ser | |
| NR_156488.2:n.665G>C |