Linked Data
dbSNP Id:
rs2067461849
gnomAD v3:
11-61865656-G-A
gnomAD v4:
11-61865656-G-A
MyVariant Identifiers:
chr11:g.61633128G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865656G>A , CM000673.2:g.61865656G>A | GRCh38 |
| NC_000011.9:g.61633128G>A , CM000673.1:g.61633128G>A | GRCh37 |
| NC_000011.8:g.61389704G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.1302G>A MANE Select | ENSP00000278840.4:p.Gly434= | |
| ENST00000257261.10:c.1236G>A | ENSP00000257261.6:p.Gly412= | |
| ENST00000278840.8:c.1302G>A | ENSP00000278840.4:p.Gly434= | |
| ENST00000522056.5:c.1209G>A | ENSP00000429500.1:p.Gly403= | |
| ENST00000523235.5:n.3382G>A | ||
| NM_001281501.1:c.1236G>A | NP_001268430.1:p.Gly412= | |
| NM_001281502.1:c.1209G>A | NP_001268431.1:p.Gly403= | |
| NM_004265.3:c.1302G>A | NP_004256.1:p.Gly434= | |
| NM_004265.4:c.1302G>A MANE Select | NP_004256.1:p.Gly434= |