Linked Data
ClinVar Variation Id:
312251
ClinVar RCV Id:
RCV000363571
dbSNP Id:
rs1054016
gnomAD v2:
13-43182002-G-T
gnomAD v3:
13-42607866-G-T
gnomAD v4:
13-42607866-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42607866G>T , CM000675.2:g.42607866G>T | GRCh38 |
| NC_000013.10:g.43182002G>T , CM000675.1:g.43182002G>T | GRCh37 |
| NC_000013.9:g.42080002G>T | NCBI36 |
| NG_008990.1:g.50131G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398795.7:c.*948G>T MANE Select | ENSP00000381775.3:n.*948G>T | |
| ENST00000398795.6:c.*948G>T | ENSP00000381775.3:n.*948G>T | |
| ENST00000405262.6:c.*948G>T | ENSP00000384042.2:n.*948G>T | |
| NM_003701.3:c.*948G>T | NP_003692.1:n.*948G>T | |
| NM_033012.3:c.*948G>T | NP_143026.1:n.*948G>T | |
| XM_011535280.1:c.*948G>T | XP_011533582.1:n.*948G>T | |
| XM_011535280.2:c.*948G>T | XP_011533582.1:n.*948G>T | |
| XM_017020802.1:c.*948G>T | XP_016876291.1:n.*948G>T | |
| XM_017020803.2:c.*948G>T | XP_016876292.1:n.*948G>T | |
| NM_003701.4:c.*948G>T MANE Select | NP_003692.1:n.*948G>T | |
| NM_033012.4:c.*948G>T | NP_143026.1:n.*948G>T |