Linked Data
ClinVar Variation Id:
342324
ClinVar RCV Id:
RCV000312941
dbSNP Id:
rs488679
gnomAD v2:
3-100945433-G-T
gnomAD v3:
3-101226589-G-T
gnomAD v4:
3-101226589-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226589G>T , CM000665.2:g.101226589G>T | GRCh38 |
| NC_000003.11:g.100945433G>T , CM000665.1:g.100945433G>T | GRCh37 |
| NC_000003.10:g.102428123G>T | NCBI36 |
| NG_028284.1:g.98987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*380C>A MANE Select | ENSP00000193391.6:n.*380C>A | |
| ENST00000193391.7:c.*380C>A | ENSP00000193391.6:n.*380C>A | |
| NM_016247.3:c.*380C>A | NP_057331.2:n.*380C>A | |
| XM_011512871.1:c.*380C>A | XP_011511173.1:n.*380C>A | |
| XM_011512872.1:c.*380C>A | XP_011511174.1:n.*380C>A | |
| NM_016247.4:c.*380C>A MANE Select | NP_057331.2:n.*380C>A |