Linked Data
dbSNP Id:
rs1062869
ExAC:
2:73868105 G / A
gnomAD v2:
2-73868105-G-A
gnomAD v4:
2-73640978-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640978G>A , CM000664.2:g.73640978G>A | GRCh38 |
| NC_000002.11:g.73868105G>A , CM000664.1:g.73868105G>A | GRCh37 |
| NC_000002.10:g.73721613G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.651C>T MANE Select | ENSP00000272425.3:p.Tyr217= | |
| ENST00000272425.3:c.651C>T | ENSP00000272425.3:p.Tyr217= | |
| NM_003960.3:c.651C>T | NP_003951.3:p.Tyr217= | |
| NM_003960.4:c.651C>T MANE Select | NP_003951.3:p.Tyr217= |