Linked Data
dbSNP Id:
rs11616202
gnomAD v2:
13-42726482-G-A
gnomAD v3:
13-42152346-G-A
gnomAD v4:
13-42152346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42152346G>A , CM000675.2:g.42152346G>A | GRCh38 |
| NC_000013.10:g.42726482G>A , CM000675.1:g.42726482G>A | GRCh37 |
| NC_000013.9:g.41624482G>A | NCBI36 |
| NG_029191.2:g.117311G>A | |
| NG_029191.3:g.117311G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337343.9:c.385-2945G>A MANE Select | ENSP00000337572.4:n.385-2945G>A | |
| ENST00000261491.9:c.385-2945G>A | ENSP00000261491.4:n.385-2945G>A | |
| ENST00000337343.8:c.385-2945G>A | ENSP00000337572.4:n.385-2945G>A | |
| ENST00000379274.6:c.385-2945G>A | ENSP00000368576.3:n.385-2945G>A | |
| ENST00000498255.6:n.450-1404G>A | ||
| ENST00000536612.3:c.-24-2945G>A | ENSP00000445114.2:n.-24-2945G>A | |
| ENST00000626247.2:c.-24-2945G>A | ENSP00000486329.1:n.-24-2945G>A | |
| ENST00000627777.2:c.-24-2945G>A | ENSP00000486838.1:n.-24-2945G>A | |
| ENST00000628433.2:c.-24-2945G>A | ENSP00000485809.1:n.-24-2945G>A | |
| NM_001204504.2:c.385-2945G>A | NP_001191433.1:n.385-2945G>A | |
| NM_001204505.2:c.-24-2945G>A | NP_001191434.1:n.-24-2945G>A | |
| NM_001204506.2:c.-24-2945G>A | NP_001191435.1:n.-24-2945G>A | |
| NM_001297429.1:c.-118-2945G>A | NP_001284358.1:n.-118-2945G>A | |
| NM_152910.5:c.385-2945G>A | NP_690874.2:n.385-2945G>A | |
| NM_178009.4:c.385-2945G>A | NP_821077.1:n.385-2945G>A | |
| NR_123714.1:n.109-2945G>A | ||
| NR_123715.1:n.556-1404G>A | ||
| NM_001204505.3:c.-24-2945G>A | NP_001191434.1:n.-24-2945G>A | |
| NM_001204506.3:c.-24-2945G>A | NP_001191435.1:n.-24-2945G>A | |
| NM_001297429.2:c.-118-2945G>A | NP_001284358.1:n.-118-2945G>A | |
| NM_152910.6:c.385-2945G>A | NP_690874.2:n.385-2945G>A | |
| NM_178009.5:c.385-2945G>A MANE Select | NP_821077.1:n.385-2945G>A | |
| NR_123714.2:n.93-2945G>A | ||
| NR_123715.2:n.540-1404G>A | ||
| NM_001204504.3:c.385-2945G>A | NP_001191433.1:n.385-2945G>A |