Linked Data
dbSNP Id:
rs1014286
ExAC:
2:103149100 G / A
gnomAD v2:
2-103149100-G-A
gnomAD v3:
2-102532641-G-A
gnomAD v4:
2-102532641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532641G>A , CM000664.2:g.102532641G>A | GRCh38 |
| NC_000002.11:g.103149100G>A , CM000664.1:g.103149100G>A | GRCh37 |
| NC_000002.10:g.102515532G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295269.5:c.2350G>A MANE Select | ENSP00000295269.4:p.Gly784Ser | |
| ENST00000295269.4:c.2350G>A | ENSP00000295269.4:p.Gly784Ser | |
| NM_001011552.3:c.2350G>A | NP_001011552.2:p.Gly784Ser | |
| XM_011511158.1:c.2263G>A | XP_011509460.1:p.Gly755Ser | |
| NM_001011552.4:c.2350G>A MANE Select | NP_001011552.2:p.Gly784Ser |