Linked Data
ClinVar Variation Id:
347852
dbSNP Id:
rs529360609
gnomAD v2:
4-155670386-C-T
gnomAD v3:
4-154749234-C-T
gnomAD v4:
4-154749234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154749234C>T , CM000666.2:g.154749234C>T | GRCh38 |
| NC_000004.11:g.155670386C>T , CM000666.1:g.155670386C>T | GRCh37 |
| NC_000004.10:g.155889836C>T | NCBI36 |
| NG_009110.1:g.10224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.*98C>T MANE Select | ENSP00000337224.3:n.*98C>T | |
| ENST00000336356.3:c.*98C>T | ENSP00000337224.3:n.*98C>T | |
| ENST00000502474.5:n.586C>T | ||
| ENST00000507827.5:c.*98C>T | ENSP00000426761.1:n.*98C>T | |
| ENST00000510733.1:n.1118C>T | ||
| NM_001301645.1:c.*98C>T | NP_001288574.1:n.*98C>T | |
| NM_004744.4:c.*98C>T | NP_004735.2:n.*98C>T | |
| XM_006714412.2:c.*98C>T | XP_006714475.1:n.*98C>T | |
| XR_938793.1:n.1327C>T | ||
| NM_004744.5:c.*98C>T MANE Select | NP_004735.2:n.*98C>T | |
| NM_001301645.2:c.*98C>T | NP_001288574.1:n.*98C>T |