Linked Data
ClinVar Variation Id:
305013
ClinVar RCV Id:
RCV000408080
dbSNP Id:
rs761350979
gnomAD v2:
11-57365182-A-T
gnomAD v3:
11-57597709-A-T
gnomAD v4:
11-57597709-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57597709A>T , CM000673.2:g.57597709A>T | GRCh38 |
| NC_000011.9:g.57365182A>T , CM000673.1:g.57365182A>T | GRCh37 |
| NC_000011.8:g.57121758A>T | NCBI36 |
| NG_009625.1:g.5156A>T , LRG_105:g.5156A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.-36A>T MANE Select | ENSP00000278407.4:n.-36A>T | |
| ENST00000619430.2:c.-36A>T | ENSP00000478572.2:n.-36A>T | |
| ENST00000677275.1:n.25A>T | ||
| ENST00000677624.1:c.-36A>T | ENSP00000503979.1:n.-36A>T | |
| ENST00000677856.1:n.24A>T | ||
| ENST00000677915.1:c.-36A>T | ENSP00000503118.1:n.-36A>T | |
| ENST00000278407.8:c.-36A>T | ENSP00000278407.4:n.-36A>T | |
| ENST00000340687.10:c.-36A>T | ENSP00000341861.6:n.-36A>T | |
| ENST00000378323.8:c.-36A>T | ENSP00000367574.4:n.-36A>T | |
| ENST00000378324.6:c.-119A>T | ENSP00000367575.2:n.-119A>T | |
| ENST00000405496.5:c.-23+178A>T | ENSP00000384561.1:n.-23+178A>T | |
| ENST00000457869.1:c.-174A>T | ENSP00000399746.1:n.-174A>T | |
| NM_000062.2:c.-36A>T , LRG_105t1:c.-36A>T | NP_000053.2:n.-36A>T | |
| NM_000062.3:c.-36A>T MANE Select | NP_000053.2:n.-36A>T |