Linked Data
ClinVar Variation Id:
311257
ClinVar RCV Id:
RCV000269031
dbSNP Id:
rs141219406
gnomAD v2:
13-113774379-C-T
gnomAD v3:
13-113120065-C-T
gnomAD v4:
13-113120065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113120065C>T , CM000675.2:g.113120065C>T | GRCh38 |
| NC_000013.10:g.113774379C>T , CM000675.1:g.113774379C>T | GRCh37 |
| NC_000013.9:g.112822380C>T | NCBI36 |
| NG_009258.1:g.2267C>T , LRG_548:g.2267C>T | |
| NG_009262.1:g.19275C>T , LRG_554:g.19275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.*1057C>T MANE Select | ENSP00000329546.4:n.*1057C>T | |
| ENST00000375581.3:c.*1057C>T | ENSP00000364731.3:n.*1057C>T | |
| ENST00000541084.5:c.*1057C>T | ENSP00000442051.2:n.*1057C>T | |
| NM_000131.4:c.*1057C>T , LRG_554t1:c.*1057C>T | NP_000122.1:n.*1057C>T | |
| NM_001267554.1:c.*1057C>T | NP_001254483.1:n.*1057C>T | |
| NM_019616.3:c.*1057C>T , LRG_554t2:c.*1057C>T | NP_062562.1:n.*1057C>T | |
| NR_051961.1:n.2479C>T | ||
| XM_006719963.2:c.*1057C>T | XP_006720026.1:n.*1057C>T | |
| XM_011537474.1:c.*1057C>T | XP_011535776.1:n.*1057C>T | |
| XM_011537475.1:c.*1057C>T | XP_011535777.1:n.*1057C>T | |
| XM_011537476.1:c.*1057C>T | XP_011535778.1:n.*1057C>T | |
| XM_011537477.1:c.*1057C>T | XP_011535779.1:n.*1057C>T | |
| XM_006719963.3:c.*1057C>T | XP_006720026.2:n.*1057C>T | |
| XM_011537474.2:c.*1057C>T | XP_011535776.2:n.*1057C>T | |
| XM_011537475.2:c.*1057C>T | XP_011535777.2:n.*1057C>T | |
| XM_011537476.2:c.*1057C>T | XP_011535778.1:n.*1057C>T | |
| NM_019616.4:c.*1057C>T MANE Select | NP_062562.1:n.*1057C>T | |
| NR_051961.2:n.2476C>T | ||
| NM_001267554.2:c.*1057C>T | NP_001254483.1:n.*1057C>T |