Linked Data
dbSNP Id:
rs1321225584
gnomAD v2:
13-42675512-G-T
gnomAD v3:
13-42101376-G-T
gnomAD v4:
13-42101376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42101376G>T , CM000675.2:g.42101376G>T | GRCh38 |
| NC_000013.10:g.42675512G>T , CM000675.1:g.42675512G>T | GRCh37 |
| NC_000013.9:g.41573512G>T | NCBI36 |
| NG_029191.2:g.66341G>T | |
| NG_029191.3:g.66341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337343.9:c.193-26087G>T MANE Select | ENSP00000337572.4:n.193-26087G>T | |
| ENST00000261491.9:c.193-26087G>T | ENSP00000261491.4:n.193-26087G>T | |
| ENST00000337343.8:c.193-26087G>T | ENSP00000337572.4:n.193-26087G>T | |
| ENST00000379274.6:c.193-26087G>T | ENSP00000368576.3:n.193-26087G>T | |
| NM_001204504.2:c.193-26087G>T | NP_001191433.1:n.193-26087G>T | |
| NM_152910.5:c.193-26087G>T | NP_690874.2:n.193-26087G>T | |
| NM_178009.4:c.193-26087G>T | NP_821077.1:n.193-26087G>T | |
| NM_152910.6:c.193-26087G>T | NP_690874.2:n.193-26087G>T | |
| NM_178009.5:c.193-26087G>T MANE Select | NP_821077.1:n.193-26087G>T | |
| NM_001204504.3:c.193-26087G>T | NP_001191433.1:n.193-26087G>T |