Linked Data
dbSNP Id:
rs1044432
gnomAD v2:
11-13409798-A-T
gnomAD v3:
11-13388251-A-T
gnomAD v4:
11-13388251-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13388251A>T , CM000673.2:g.13388251A>T | GRCh38 |
| NC_000011.9:g.13409798A>T , CM000673.1:g.13409798A>T | GRCh37 |
| NC_000011.8:g.13366374A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278174.10:c.*580T>A MANE Select | ENSP00000278174.5:n.*580T>A | |
| ENST00000278174.9:c.*580T>A | ENSP00000278174.5:n.*580T>A | |
| ENST00000527102.6:c.*1310T>A | ENSP00000435303.2:n.*1310T>A | |
| NM_001297741.1:c.*580T>A | NP_001284670.1:n.*580T>A | |
| NM_001297742.1:c.*580T>A | NP_001284671.1:n.*580T>A | |
| NM_032320.6:c.*580T>A | NP_115696.2:n.*580T>A | |
| XM_011520404.1:c.*580T>A | XP_011518706.1:n.*580T>A | |
| XM_017018405.1:c.*580T>A | XP_016873894.1:n.*580T>A | |
| XM_017018406.2:c.*580T>A | XP_016873895.1:n.*580T>A | |
| XM_017018409.1:c.*580T>A | XP_016873898.1:n.*580T>A | |
| XM_017018410.1:c.*580T>A | XP_016873899.1:n.*580T>A | |
| XM_017018411.1:c.*580T>A | XP_016873900.1:n.*580T>A | |
| XM_024448712.1:c.*580T>A | XP_024304480.1:n.*580T>A | |
| XM_024448713.1:c.*580T>A | XP_024304481.1:n.*580T>A | |
| XR_001748000.2:n.3369T>A | ||
| XR_001748001.2:n.2349T>A | ||
| XR_001748002.2:n.2204T>A | ||
| NM_001297741.2:c.*580T>A | NP_001284670.1:n.*580T>A | |
| NM_001297742.2:c.*580T>A | NP_001284671.1:n.*580T>A | |
| NM_032320.7:c.*580T>A MANE Select | NP_115696.2:n.*580T>A |