Linked Data
dbSNP Id:
rs1405337018
gnomAD v2:
10-62181198-G-A
gnomAD v3:
10-60421440-G-A
gnomAD v4:
10-60421440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60421440G>A , CM000672.2:g.60421440G>A | GRCh38 |
| NC_000010.10:g.62181198G>A , CM000672.1:g.62181198G>A | GRCh37 |
| NC_000010.9:g.61851204G>A | NCBI36 |
| NG_029917.1:g.317087C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503366.6:c.64-141801C>T | ENSP00000425236.1:n.64-141801C>T | |
| ENST00000373827.6:c.97-141801C>T | ENSP00000362933.2:n.97-141801C>T | |
| ENST00000503366.5:c.64-141801C>T | ENSP00000425236.1:n.64-141801C>T | |
| ENST00000622427.4:c.64-141801C>T | ENSP00000483244.1:n.64-141801C>T | |
| NM_001204403.1:c.97-141801C>T | NP_001191332.1:n.97-141801C>T | |
| NM_001204404.1:c.64-141801C>T | NP_001191333.1:n.64-141801C>T | |
| XM_011539700.1:c.103-141801C>T | XP_011538002.1:n.103-141801C>T | |
| XM_011539701.1:c.97-141801C>T | XP_011538003.1:n.97-141801C>T | |
| XM_011539702.1:c.58-141801C>T | XP_011538004.1:n.58-141801C>T | |
| XM_011539704.1:c.15+76544C>T | XP_011538006.1:n.15+76544C>T | |
| XM_017016114.1:c.64-141801C>T | XP_016871603.1:n.64-141801C>T | |
| XM_024447958.1:c.64-141801C>T | XP_024303726.1:n.64-141801C>T | |
| NM_001204403.2:c.97-141801C>T | NP_001191332.1:n.97-141801C>T | |
| NM_001204404.2:c.64-141801C>T | NP_001191333.1:n.64-141801C>T |