Linked Data
dbSNP Id:
rs2238009
gnomAD v2:
11-128711037-C-T
gnomAD v3:
11-128841142-C-T
gnomAD v4:
11-128841142-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128841142C>T , CM000673.2:g.128841142C>T | GRCh38 |
| NC_000011.9:g.128711037C>T , CM000673.1:g.128711037C>T | GRCh37 |
| NC_000011.8:g.128216247C>T | NCBI36 |
| NG_009379.1:g.31232G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392666.6:c.-21-878G>A MANE Select | ENSP00000376434.1:n.-21-878G>A | |
| ENST00000324003.3:c.-21-878G>A | ENSP00000316136.3:n.-21-878G>A | |
| ENST00000324036.7:c.-21-878G>A | ENSP00000316233.3:n.-21-878G>A | |
| ENST00000392664.2:c.37-878G>A | ENSP00000376432.2:n.37-878G>A | |
| ENST00000392665.6:c.-21-878G>A | ENSP00000376433.2:n.-21-878G>A | |
| ENST00000392666.5:c.-21-878G>A | ENSP00000376434.1:n.-21-878G>A | |
| ENST00000440599.6:c.-21-878G>A | ENSP00000406320.2:n.-21-878G>A | |
| ENST00000531562.1:n.325-878G>A | ||
| NM_000220.4:c.37-878G>A | NP_000211.1:n.37-878G>A | |
| NM_153764.2:c.-21-878G>A | NP_722448.1:n.-21-878G>A | |
| NM_153765.2:c.31-878G>A | NP_722449.3:n.31-878G>A | |
| NM_153766.2:c.-21-878G>A | NP_722450.1:n.-21-878G>A | |
| NM_153767.3:c.-21-878G>A | NP_722451.1:n.-21-878G>A | |
| NM_000220.6:c.37-878G>A | NP_000211.1:n.37-878G>A | |
| NM_153764.3:c.-21-878G>A | NP_722448.1:n.-21-878G>A | |
| NM_153765.3:c.31-878G>A | NP_722449.3:n.31-878G>A | |
| NM_153766.3:c.-21-878G>A MANE Select | NP_722450.1:n.-21-878G>A | |
| NM_153767.4:c.-21-878G>A | NP_722451.1:n.-21-878G>A |