Linked Data
ClinVar Variation Id:
738778
ClinVar RCV Id:
RCV000914702
dbSNP Id:
rs782126371
ExAC:
12:7083590 T / C
gnomAD v2:
12-7083590-T-C
gnomAD v4:
12-6974428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974428T>C , CM000674.2:g.6974428T>C | GRCh38 |
| NC_000012.11:g.7083590T>C , CM000674.1:g.7083590T>C | GRCh37 |
| NC_000012.10:g.6953851T>C | NCBI36 |
| NG_021408.1:g.8648T>C | |
| NG_021408.2:g.8648T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599672.6:c.258T>C MANE Select | ENSP00000470560.1:p.Asp86= | |
| ENST00000261406.7:c.240T>C | ENSP00000476966.2:p.Asp80= | |
| ENST00000539196.2:c.121T>C | ||
| ENST00000599672.5:c.258T>C | ENSP00000470560.1:p.Asp86= | |
| ENST00000607161.5:c.261T>C | ENSP00000480420.1:p.Asp87= | |
| ENST00000611981.1:n.269T>C | ||
| ENST00000620255.1:n.247T>C | ||
| NM_006331.7:c.258T>C | NP_006322.4:p.Asp86= | |
| XM_011520907.1:c.258T>C | XP_011519209.1:p.Asp86= | |
| NM_001320049.1:c.258T>C | NP_001306978.1:p.Asp86= | |
| NR_135131.1:n.401T>C | ||
| NM_006331.8:c.258T>C MANE Select | NP_006322.4:p.Asp86= | |
| NM_001320049.2:c.258T>C | NP_001306978.1:p.Asp86= | |
| NR_135131.2:n.269T>C |