Linked Data
ClinVar Variation Id:
335421
ClinVar RCV Id:
RCV000387070
dbSNP Id:
rs886055872
gnomAD v2:
2-26680336-A-T
gnomAD v3:
2-26457468-A-T
gnomAD v4:
2-26457468-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26457468A>T , CM000664.2:g.26457468A>T | GRCh38 |
| NC_000002.11:g.26680336A>T , CM000664.1:g.26680336A>T | GRCh37 |
| NC_000002.10:g.26533840A>T | NCBI36 |
| NG_009937.1:g.106231T>A | |
| NG_042824.1:g.60557A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.*770T>A MANE Select | ENSP00000272371.2:n.*770T>A | |
| ENST00000339598.8:c.*572T>A MANE Plus Clinical | ENSP00000344521.3:n.*572T>A | |
| ENST00000402415.8:c.*770T>A | ENSP00000383906.4:n.*770T>A | |
| ENST00000272371.6:c.*770T>A | ENSP00000272371.2:n.*770T>A | |
| ENST00000338581.10:c.*770T>A | ENSP00000345137.6:n.*770T>A | |
| ENST00000339598.7:c.*572T>A | ENSP00000344521.3:n.*572T>A | |
| ENST00000402415.7:c.*770T>A | ENSP00000383906.3:n.*770T>A | |
| ENST00000403946.7:c.*572T>A | ENSP00000385255.3:n.*572T>A | |
| NM_001287489.1:c.*572T>A | NP_001274418.1:n.*572T>A | |
| NM_004802.3:c.*770T>A | NP_004793.2:n.*770T>A | |
| NM_194248.2:c.*770T>A | NP_919224.1:n.*770T>A | |
| NM_194322.2:c.*770T>A | NP_919303.1:n.*770T>A | |
| NM_194323.2:c.*572T>A | NP_919304.1:n.*572T>A | |
| NM_001287489.2:c.*572T>A | NP_001274418.1:n.*572T>A | |
| NM_004802.4:c.*770T>A | NP_004793.2:n.*770T>A | |
| NM_194248.3:c.*770T>A MANE Select | NP_919224.1:n.*770T>A | |
| NM_194322.3:c.*770T>A | NP_919303.1:n.*770T>A | |
| NM_194323.3:c.*572T>A MANE Plus Clinical | NP_919304.1:n.*572T>A |