Linked Data
dbSNP Id:
rs1347510128
gnomAD v2:
2-73867982-G-T
gnomAD v3:
2-73640855-G-T
gnomAD v4:
2-73640855-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640855G>T , CM000664.2:g.73640855G>T | GRCh38 |
| NC_000002.11:g.73867982G>T , CM000664.1:g.73867982G>T | GRCh37 |
| NC_000002.10:g.73721490G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*90C>A MANE Select | ENSP00000272425.3:n.*90C>A | |
| ENST00000272425.3:c.*90C>A | ENSP00000272425.3:n.*90C>A | |
| NM_003960.3:c.*90C>A | NP_003951.3:n.*90C>A | |
| NM_003960.4:c.*90C>A MANE Select | NP_003951.3:n.*90C>A |