Linked Data
ClinVar Variation Id:
301555
dbSNP Id:
rs1131706
gnomAD v2:
10-90973676-A-T
gnomAD v3:
10-89213919-A-T
gnomAD v4:
10-89213919-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89213919A>T , CM000672.2:g.89213919A>T | GRCh38 |
| NC_000010.10:g.90973676A>T , CM000672.1:g.90973676A>T | GRCh37 |
| NC_000010.9:g.90963656A>T | NCBI36 |
| NG_008194.1:g.42985T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336233.10:c.*909T>A MANE Select | ENSP00000337354.5:n.*909T>A | |
| ENST00000336233.9:c.*909T>A | ENSP00000337354.5:n.*909T>A | |
| ENST00000371837.5:c.*909T>A | ENSP00000360903.1:n.*909T>A | |
| ENST00000456827.5:c.*909T>A | ENSP00000413019.2:n.*909T>A | |
| NM_000235.3:c.*909T>A | NP_000226.2:n.*909T>A | |
| NM_001127605.2:c.*909T>A | NP_001121077.1:n.*909T>A | |
| NM_001288979.1:c.*909T>A | NP_001275908.1:n.*909T>A | |
| XM_024448023.1:c.*909T>A | XP_024303791.1:n.*909T>A | |
| NM_000235.4:c.*909T>A MANE Select | NP_000226.2:n.*909T>A | |
| NM_001127605.3:c.*909T>A | NP_001121077.1:n.*909T>A | |
| NM_001288979.2:c.*909T>A | NP_001275908.1:n.*909T>A |