Linked Data
ClinVar Variation Id:
3951
ClinVar RCV Id:
RCV000004157
dbSNP Id:
rs112565881
PubMed:
PMID:1684567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57611937G>T , CM000673.2:g.57611937G>T | GRCh38 |
| NC_000011.9:g.57379410G>T , CM000673.1:g.57379410G>T | GRCh37 |
| NC_000011.8:g.57135986G>T | NCBI36 |
| NG_009625.1:g.19384G>T , LRG_105:g.19384G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278407.9:c.1249+1G>T MANE Select | ENSP00000278407.4:n.1249+1G>T | |
| ENST00000528996.2:c.*146+1G>T | ENSP00000431226.2:n.*146+1G>T | |
| ENST00000531605.2:c.*1025+1G>T | ENSP00000503752.1:n.*1025+1G>T | |
| ENST00000619430.2:c.1045+1G>T | ENSP00000478572.2:n.1045+1G>T | |
| ENST00000676670.1:c.1249+1G>T | ENSP00000504807.1:n.1249+1G>T | |
| ENST00000676741.1:n.2331+1G>T | ||
| ENST00000677624.1:c.*669+1G>T | ENSP00000503979.1:n.*669+1G>T | |
| ENST00000677625.1:c.1195+1G>T | ENSP00000502857.1:n.1195+1G>T | |
| ENST00000677856.1:n.1502+1G>T | ||
| ENST00000677915.1:c.*146+1G>T | ENSP00000503118.1:n.*146+1G>T | |
| ENST00000678533.1:c.*803+1G>T | ENSP00000503873.1:n.*803+1G>T | |
| ENST00000678592.1:c.*189+1G>T | ENSP00000504424.1:n.*189+1G>T | |
| ENST00000278407.8:c.1249+1G>T | ENSP00000278407.4:n.1249+1G>T | |
| ENST00000340687.10:c.1138+1G>T | ENSP00000341861.6:n.1138+1G>T | |
| ENST00000378323.8:c.1264+1G>T | ENSP00000367574.4:n.1264+1G>T | |
| ENST00000378324.6:c.1093+1G>T | ENSP00000367575.2:n.1093+1G>T | |
| ENST00000403558.1:c.1378+1G>T | ENSP00000384420.1:n.1378+1G>T | |
| ENST00000528996.1:c.450+1G>T | ENSP00000431226.1:n.450+1G>T | |
| ENST00000530113.1:n.706+1G>T | ||
| ENST00000531133.5:c.750+1G>T | ENSP00000435431.1:n.750+1G>T | |
| ENST00000531797.5:c.*274+1G>T | ENSP00000432554.1:n.*274+1G>T | |
| ENST00000619430.1:c.380+1G>T | ENSP00000478572.1:n.380+1G>T | |
| NM_000062.2:c.1249+1G>T , LRG_105t1:c.1249+1G>T | NP_000053.2:n.1249+1G>T | |
| NM_001032295.1:c.1249+1G>T | NP_001027466.1:n.1249+1G>T | |
| NM_000062.3:c.1249+1G>T MANE Select | NP_000053.2:n.1249+1G>T | |
| NM_001032295.2:c.1249+1G>T | NP_001027466.1:n.1249+1G>T |