Linked Data
dbSNP Id:
rs2509585
gnomAD v2:
11-128735396-G-A
gnomAD v3:
11-128865501-G-A
gnomAD v4:
11-128865501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128865501G>A , CM000673.2:g.128865501G>A | GRCh38 |
| NC_000011.9:g.128735396G>A , CM000673.1:g.128735396G>A | GRCh37 |
| NC_000011.8:g.128240606G>A | NCBI36 |
| NG_009379.1:g.6873C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392666.6:c.-192+1672C>T MANE Select | ENSP00000376434.1:n.-192+1672C>T | |
| ENST00000324003.3:c.-192+1672C>T | ENSP00000316136.3:n.-192+1672C>T | |
| ENST00000324036.7:c.-192+1022C>T | ENSP00000316233.3:n.-192+1022C>T | |
| ENST00000392665.6:c.-22+1672C>T | ENSP00000376433.2:n.-22+1672C>T | |
| ENST00000392666.5:c.-192+1672C>T | ENSP00000376434.1:n.-192+1672C>T | |
| ENST00000440599.6:c.-22+1022C>T | ENSP00000406320.2:n.-22+1022C>T | |
| ENST00000531562.1:n.124+1672C>T | ||
| NM_153764.2:c.-22+1672C>T | NP_722448.1:n.-22+1672C>T | |
| NM_153765.2:c.30+1022C>T | NP_722449.3:n.30+1022C>T | |
| NM_153766.2:c.-192+1672C>T | NP_722450.1:n.-192+1672C>T | |
| NM_153767.3:c.-192+1022C>T | NP_722451.1:n.-192+1022C>T | |
| XR_001748442.1:n.3533-1249G>A | ||
| NM_153764.3:c.-22+1672C>T | NP_722448.1:n.-22+1672C>T | |
| NM_153765.3:c.30+1022C>T | NP_722449.3:n.30+1022C>T | |
| NM_153766.3:c.-192+1672C>T MANE Select | NP_722450.1:n.-192+1672C>T | |
| NM_153767.4:c.-192+1022C>T | NP_722451.1:n.-192+1022C>T |