Linked Data
dbSNP Id:
rs1943234433
gnomAD v3:
11-128839488-G-T
gnomAD v4:
11-128839488-G-T
MyVariant Identifiers:
chr11:g.128709383G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839488G>T , CM000673.2:g.128839488G>T | GRCh38 |
| NC_000011.9:g.128709383G>T , CM000673.1:g.128709383G>T | GRCh37 |
| NC_000011.8:g.128214593G>T | NCBI36 |
| NG_009379.1:g.32886C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.756C>A MANE Select | ENSP00000376434.1:p.Val252= | |
| ENST00000324036.7:c.756C>A | ENSP00000316233.3:p.Val252= | |
| ENST00000392664.2:c.813C>A | ENSP00000376432.2:p.Val271= | |
| ENST00000392665.6:c.756C>A | ENSP00000376433.2:p.Val252= | |
| ENST00000392666.5:c.756C>A | ENSP00000376434.1:p.Val252= | |
| ENST00000440599.6:c.756C>A | ENSP00000406320.2:p.Val252= | |
| NM_000220.4:c.813C>A | NP_000211.1:p.Val271= | |
| NM_153764.2:c.756C>A | NP_722448.1:p.Val252= | |
| NM_153765.2:c.807C>A | NP_722449.3:p.Val269= | |
| NM_153766.2:c.756C>A | NP_722450.1:p.Val252= | |
| NM_153767.3:c.756C>A | NP_722451.1:p.Val252= | |
| NM_000220.6:c.813C>A | NP_000211.1:p.Val271= | |
| NM_153764.3:c.756C>A | NP_722448.1:p.Val252= | |
| NM_153765.3:c.807C>A | NP_722449.3:p.Val269= | |
| NM_153766.3:c.756C>A MANE Select | NP_722450.1:p.Val252= | |
| NM_153767.4:c.756C>A | NP_722451.1:p.Val252= |