Linked Data
ClinVar Variation Id:
303577
dbSNP Id:
rs139185738
ExAC:
11:128710122 C / T
gnomAD v2:
11-128710122-C-T
gnomAD v3:
11-128840227-C-T
gnomAD v4:
11-128840227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128840227C>T , CM000673.2:g.128840227C>T | GRCh38 |
| NC_000011.9:g.128710122C>T , CM000673.1:g.128710122C>T | GRCh37 |
| NC_000011.8:g.128215332C>T | NCBI36 |
| NG_009379.1:g.32147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.17G>A MANE Select | ENSP00000376434.1:p.Arg6Gln | |
| ENST00000324003.3:c.17G>A | ENSP00000316136.3:p.Arg6Gln | |
| ENST00000324036.7:c.17G>A | ENSP00000316233.3:p.Arg6Gln | |
| ENST00000392664.2:c.74G>A | ENSP00000376432.2:p.Arg25Gln | |
| ENST00000392665.6:c.17G>A | ENSP00000376433.2:p.Arg6Gln | |
| ENST00000392666.5:c.17G>A | ENSP00000376434.1:p.Arg6Gln | |
| ENST00000440599.6:c.17G>A | ENSP00000406320.2:p.Arg6Gln | |
| ENST00000531562.1:n.362G>A | ||
| NM_000220.4:c.74G>A | NP_000211.1:p.Arg25Gln | |
| NM_153764.2:c.17G>A | NP_722448.1:p.Arg6Gln | |
| NM_153765.2:c.68G>A | NP_722449.3:p.Arg23Gln | |
| NM_153766.2:c.17G>A | NP_722450.1:p.Arg6Gln | |
| NM_153767.3:c.17G>A | NP_722451.1:p.Arg6Gln | |
| NM_000220.6:c.74G>A | NP_000211.1:p.Arg25Gln | |
| NM_153764.3:c.17G>A | NP_722448.1:p.Arg6Gln | |
| NM_153765.3:c.68G>A | NP_722449.3:p.Arg23Gln | |
| NM_153766.3:c.17G>A MANE Select | NP_722450.1:p.Arg6Gln | |
| NM_153767.4:c.17G>A | NP_722451.1:p.Arg6Gln |