Linked Data
ClinVar Variation Id:
1291640
ClinVar RCV Id:
RCV001713520
dbSNP Id:
rs17592236
gnomAD v2:
13-41131932-C-T
gnomAD v3:
13-40557795-C-T
gnomAD v4:
13-40557795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40557795C>T , CM000675.2:g.40557795C>T | GRCh38 |
| NC_000013.10:g.41131932C>T , CM000675.1:g.41131932C>T | GRCh37 |
| NC_000013.9:g.40029932C>T | NCBI36 |
| NG_023244.1:g.113803G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379561.6:c.*1254G>A MANE Select | ENSP00000368880.4:n.*1254G>A | |
| ENST00000379561.5:c.*1254G>A | ENSP00000368880.4:n.*1254G>A | |
| NM_002015.3:c.*1254G>A | NP_002006.2:n.*1254G>A | |
| XM_011535008.1:c.*1254G>A | XP_011533310.1:n.*1254G>A | |
| XM_011535009.1:c.*1254G>A | XP_011533311.1:n.*1254G>A | |
| XM_011535010.1:c.*1254G>A | XP_011533312.1:n.*1254G>A | |
| XM_011535008.2:c.*1254G>A | XP_011533310.1:n.*1254G>A | |
| XM_011535010.2:c.*1254G>A | XP_011533312.1:n.*1254G>A | |
| NM_002015.4:c.*1254G>A MANE Select | NP_002006.2:n.*1254G>A |