Linked Data
ClinVar Variation Id:
41181
ClinVar RCV Id:
RCV000034080
dbSNP Id:
rs267607273
gnomAD v4:
11-67489471-G-T
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489471G>T , CM000673.2:g.67489471G>T | GRCh38 |
| NC_000011.9:g.67256942G>T , CM000673.1:g.67256942G>T | GRCh37 |
| NC_000011.8:g.67013518G>T | NCBI36 |
| NG_008969.1:g.11438G>T , LRG_460:g.11438G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.445+16G>T | ||
| ENST00000528641.7:c.280-567G>T | ENSP00000434982.3:n.280-567G>T | |
| ENST00000529797.2:n.414G>T | ||
| ENST00000682324.1:c.468+16G>T | ENSP00000508017.1:n.468+16G>T | |
| ENST00000682659.1:c.100-567G>T | ENSP00000507351.1:n.100-567G>T | |
| ENST00000682699.1:c.468+16G>T | ENSP00000507935.1:n.468+16G>T | |
| ENST00000683237.1:c.468+16G>T | ENSP00000507343.1:n.468+16G>T | |
| ENST00000683856.1:c.291+16G>T | ENSP00000507979.1:n.291+16G>T | |
| ENST00000684006.1:c.468+16G>T | ENSP00000507269.1:n.468+16G>T | |
| ENST00000684657.1:c.288+16G>T | ENSP00000507961.1:n.288+16G>T | |
| ENST00000279146.8:c.468+16G>T MANE Select | ENSP00000279146.3:n.468+16G>T | |
| ENST00000279146.7:c.468+16G>T | ENSP00000279146.3:n.468+16G>T | |
| ENST00000525341.1:c.120+16G>T | ENSP00000476993.1:n.120+16G>T | |
| ENST00000528641.6:c.280-567G>T | ENSP00000434982.2:n.280-567G>T | |
| ENST00000529797.1:n.594G>T | ||
| NM_001302959.1:c.291+16G>T | NP_001289888.1:n.291+16G>T | |
| NM_001302960.1:c.468+16G>T | NP_001289889.1:n.468+16G>T | |
| NM_003977.3:c.468+16G>T | NP_003968.3:n.468+16G>T | |
| XM_024448761.1:c.468+16G>T | XP_024304529.1:n.468+16G>T | |
| NM_003977.4:c.468+16G>T MANE Select | NP_003968.3:n.468+16G>T | |
| NM_001302960.2:c.468+16G>T | NP_001289889.1:n.468+16G>T | |
| NM_001302959.2:c.291+16G>T | NP_001289888.1:n.291+16G>T |