Linked Data
dbSNP Id:
rs1062874
ExAC:
2:73868075 C / T
gnomAD v2:
2-73868075-C-T
gnomAD v4:
2-73640948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640948C>T , CM000664.2:g.73640948C>T | GRCh38 |
| NC_000002.11:g.73868075C>T , CM000664.1:g.73868075C>T | GRCh37 |
| NC_000002.10:g.73721583C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.681G>A MANE Select | ENSP00000272425.3:p.Leu227= | |
| ENST00000272425.3:c.681G>A | ENSP00000272425.3:p.Leu227= | |
| NM_003960.3:c.681G>A | NP_003951.3:p.Leu227= | |
| NM_003960.4:c.681G>A MANE Select | NP_003951.3:p.Leu227= |