Linked Data
ClinVar Variation Id:
1642440
ClinVar RCV Id:
RCV002134559
dbSNP Id:
rs780963135
ExAC:
4:187118274 T / C
gnomAD v2:
4-187118274-T-C
gnomAD v3:
4-186197120-T-C
gnomAD v4:
4-186197120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197120T>C , CM000666.2:g.186197120T>C | GRCh38 |
| NC_000004.11:g.187118274T>C , CM000666.1:g.187118274T>C | GRCh37 |
| NC_000004.10:g.187355268T>C | NCBI36 |
| NG_007965.1:g.10601T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.594T>C MANE Select | ENSP00000368079.4:p.Asp198= | |
| ENST00000378802.4:c.594T>C | ENSP00000368079.4:p.Asp198= | |
| ENST00000507209.5:n.1033T>C | ||
| NM_207352.3:c.594T>C | NP_997235.3:p.Asp198= | |
| XM_005262935.2:c.594T>C | XP_005262992.1:p.Asp198= | |
| XM_006714184.2:c.198T>C | XP_006714247.1:p.Asp66= | |
| XM_005262935.4:c.594T>C | XP_005262992.1:p.Asp198= | |
| XM_017008037.1:c.198T>C | XP_016863526.1:p.Asp66= | |
| NM_207352.4:c.594T>C MANE Select | NP_997235.3:p.Asp198= |