Linked Data
dbSNP Id:
rs746583182
ExAC:
2:73868099 G / A
gnomAD v2:
2-73868099-G-A
gnomAD v4:
2-73640972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640972G>A , CM000664.2:g.73640972G>A | GRCh38 |
| NC_000002.11:g.73868099G>A , CM000664.1:g.73868099G>A | GRCh37 |
| NC_000002.10:g.73721607G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.657C>T MANE Select | ENSP00000272425.3:p.Leu219= | |
| ENST00000272425.3:c.657C>T | ENSP00000272425.3:p.Leu219= | |
| NM_003960.3:c.657C>T | NP_003951.3:p.Leu219= | |
| NM_003960.4:c.657C>T MANE Select | NP_003951.3:p.Leu219= |