Linked Data
ClinVar Variation Id:
235615
dbSNP Id:
rs748305494
ExAC:
11:128709105 T / C
gnomAD v2:
11-128709105-T-C
gnomAD v3:
11-128839210-T-C
gnomAD v4:
11-128839210-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839210T>C , CM000673.2:g.128839210T>C | GRCh38 |
| NC_000011.9:g.128709105T>C , CM000673.1:g.128709105T>C | GRCh37 |
| NC_000011.8:g.128214315T>C | NCBI36 |
| NG_009379.1:g.33164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.1034A>G MANE Select | ENSP00000376434.1:p.Asp345Gly | |
| ENST00000324036.7:c.1034A>G | ENSP00000316233.3:p.Asp345Gly | |
| ENST00000392664.2:c.1091A>G | ENSP00000376432.2:p.Asp364Gly | |
| ENST00000392665.6:c.1034A>G | ENSP00000376433.2:p.Asp345Gly | |
| ENST00000392666.5:c.1034A>G | ENSP00000376434.1:p.Asp345Gly | |
| ENST00000440599.6:c.1034A>G | ENSP00000406320.2:p.Asp345Gly | |
| NM_000220.4:c.1091A>G | NP_000211.1:p.Asp364Gly | |
| NM_153764.2:c.1034A>G | NP_722448.1:p.Asp345Gly | |
| NM_153765.2:c.1085A>G | NP_722449.3:p.Asp362Gly | |
| NM_153766.2:c.1034A>G | NP_722450.1:p.Asp345Gly | |
| NM_153767.3:c.1034A>G | NP_722451.1:p.Asp345Gly | |
| NM_000220.6:c.1091A>G | NP_000211.1:p.Asp364Gly | |
| NM_153764.3:c.1034A>G | NP_722448.1:p.Asp345Gly | |
| NM_153765.3:c.1085A>G | NP_722449.3:p.Asp362Gly | |
| NM_153766.3:c.1034A>G MANE Select | NP_722450.1:p.Asp345Gly | |
| NM_153767.4:c.1034A>G | NP_722451.1:p.Asp345Gly |