Linked Data
ClinVar Variation Id:
896146
ClinVar RCV Id:
RCV001138638
dbSNP Id:
rs1670625602
gnomAD v4:
2-72891770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891770G>A , CM000664.2:g.72891770G>A | GRCh38 |
| NC_000002.11:g.73118899G>A , CM000664.1:g.73118899G>A | GRCh37 |
| NC_000002.10:g.72972407G>A | NCBI36 |
| NG_008234.1:g.9388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*233G>A MANE Select | ENSP00000234454.5:n.*233G>A | |
| ENST00000234454.5:c.*233G>A | ENSP00000234454.5:n.*233G>A | |
| NM_003124.4:c.*233G>A | NP_003115.1:n.*233G>A | |
| NM_003124.5:c.*233G>A MANE Select | NP_003115.1:n.*233G>A |