Linked Data
dbSNP Id:
rs1211517783
gnomAD v2:
15-91545213-G-C
gnomAD v3:
15-91001983-G-C
gnomAD v4:
15-91001983-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91001983G>C , CM000677.2:g.91001983G>C | GRCh38 |
| NC_000015.9:g.91545213G>C , CM000677.1:g.91545213G>C | GRCh37 |
| NC_000015.8:g.89346217G>C | NCBI36 |
| NG_012162.1:g.25621C>G , LRG_884:g.25621C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1405+67C>G MANE Select | ENSP00000327650.4:n.1405+67C>G | |
| ENST00000643536.1:c.1405+67C>G | ENSP00000494429.1:n.1405+67C>G | |
| ENST00000647331.1:c.1405+67C>G | ENSP00000493953.1:n.1405+67C>G | |
| ENST00000333371.7:c.1405+67C>G | ENSP00000327650.3:n.1405+67C>G | |
| ENST00000535906.1:c.1324+67C>G | ENSP00000444053.1:n.1324+67C>G | |
| ENST00000574755.5:c.*1100+67C>G | ENSP00000460413.1:n.*1100+67C>G | |
| NM_001289148.1:c.1324+67C>G | NP_001276077.1:n.1324+67C>G | |
| NM_001289149.1:c.1132+67C>G | NP_001276078.1:n.1132+67C>G | |
| NM_018668.4:c.1405+67C>G , LRG_884t1:c.1405+67C>G | NP_061138.3:n.1405+67C>G | |
| XM_005254884.2:c.1327+67C>G | XP_005254941.1:n.1327+67C>G | |
| XM_005254887.1:c.1132+67C>G | XP_005254944.1:n.1132+67C>G | |
| XM_011521448.1:c.1132+67C>G | XP_011519750.1:n.1132+67C>G | |
| XM_011521449.1:c.1081+67C>G | XP_011519751.1:n.1081+67C>G | |
| XM_011521449.2:c.1081+67C>G | XP_011519751.1:n.1081+67C>G | |
| XM_017022075.2:c.1060+67C>G | XP_016877564.1:n.1060+67C>G | |
| XM_017022076.1:c.1060+67C>G | XP_016877565.1:n.1060+67C>G | |
| XR_001751213.2:n.1903+67C>G | ||
| NM_018668.5:c.1405+67C>G MANE Select | NP_061138.3:n.1405+67C>G |