Linked Data
dbSNP Id:
rs535860
gnomAD v2:
11-117159878-A-T
gnomAD v3:
11-117289162-A-T
gnomAD v4:
11-117289162-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117289162A>T , CM000673.2:g.117289162A>T | GRCh38 |
| NC_000011.9:g.117159878A>T , CM000673.1:g.117159878A>T | GRCh37 |
| NC_000011.8:g.116665088A>T | NCBI36 |
| NG_029372.1:g.32095T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313005.11:c.*404T>A MANE Select | ENSP00000318585.6:n.*404T>A | |
| ENST00000679585.1:n.2353T>A | ||
| ENST00000680271.1:n.1698T>A | ||
| ENST00000680681.1:c.*636T>A | ENSP00000505419.1:n.*636T>A | |
| ENST00000680800.1:n.1716T>A | ||
| ENST00000680971.1:c.*404T>A | ENSP00000506107.1:n.*404T>A | |
| ENST00000681714.1:n.1171T>A | ||
| ENST00000681753.1:n.1113T>A | ||
| ENST00000313005.10:c.*404T>A | ENSP00000318585.6:n.*404T>A | |
| ENST00000392937.10:c.*404T>A | ENSP00000475405.1:n.*404T>A | |
| ENST00000528053.5:c.*404T>A | ENSP00000431848.1:n.*404T>A | |
| NM_001207048.1:c.*404T>A | NP_001193977.1:n.*404T>A | |
| NM_001207049.1:c.*404T>A | NP_001193978.1:n.*404T>A | |
| NM_012104.4:c.*404T>A | NP_036236.1:n.*404T>A | |
| NM_138971.3:c.*404T>A | NP_620427.1:n.*404T>A | |
| NM_138972.3:c.*404T>A | NP_620428.1:n.*404T>A | |
| NM_138973.3:c.*404T>A | NP_620429.1:n.*404T>A | |
| NM_001207048.2:c.*404T>A | NP_001193977.1:n.*404T>A | |
| NM_001207049.2:c.*404T>A | NP_001193978.1:n.*404T>A | |
| NM_001207048.3:c.*404T>A | NP_001193977.1:n.*404T>A | |
| NM_001207049.3:c.*404T>A | NP_001193978.1:n.*404T>A | |
| NM_012104.6:c.*404T>A MANE Select | NP_036236.1:n.*404T>A | |
| NM_138971.4:c.*404T>A | NP_620427.1:n.*404T>A | |
| NM_138972.4:c.*404T>A | NP_620428.1:n.*404T>A | |
| NM_138973.4:c.*404T>A | NP_620429.1:n.*404T>A |