Linked Data
dbSNP Id:
rs11683424
gnomAD v2:
2-25489132-C-T
gnomAD v3:
2-25266263-C-T
gnomAD v4:
2-25266263-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25266263C>T , CM000664.2:g.25266263C>T | GRCh38 |
| NC_000002.11:g.25489132C>T , CM000664.1:g.25489132C>T | GRCh37 |
| NC_000002.10:g.25342636C>T | NCBI36 |
| NG_029465.2:g.81328G>A , LRG_459:g.81328G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321117.10:c.639+8678G>A MANE Select | ENSP00000324375.5:n.639+8678G>A | |
| ENST00000264709.7:c.639+8678G>A | ENSP00000264709.3:n.639+8678G>A | |
| ENST00000321117.9:c.639+8678G>A | ENSP00000324375.5:n.639+8678G>A | |
| ENST00000380756.7:c.639+8678G>A | ENSP00000370132.3:n.639+8678G>A | |
| NM_022552.4:c.639+8678G>A , LRG_459t1:c.639+8678G>A | NP_072046.2:n.639+8678G>A | |
| NM_175629.2:c.639+8678G>A , LRG_459t4:c.639+8678G>A | NP_783328.1:n.639+8678G>A | |
| XM_005264175.3:c.639+8678G>A | XP_005264232.1:n.639+8678G>A | |
| XM_006711957.2:c.639+8678G>A | XP_006712020.1:n.639+8678G>A | |
| XM_006711958.2:c.195+8678G>A | XP_006712021.1:n.195+8678G>A | |
| XM_011532662.1:c.492+8678G>A | XP_011530964.1:n.492+8678G>A | |
| XM_011532663.1:c.474+8678G>A | XP_011530965.1:n.474+8678G>A | |
| XM_011532664.1:c.639+8678G>A | XP_011530966.1:n.639+8678G>A | |
| XM_011532668.1:c.639+8678G>A | XP_011530970.1:n.639+8678G>A | |
| NR_135490.1:n.977+8678G>A | ||
| XM_005264175.5:c.639+8678G>A | XP_005264232.1:n.639+8678G>A | |
| XM_011532662.2:c.492+8678G>A | XP_011530964.1:n.492+8678G>A | |
| XM_011532663.2:c.474+8678G>A | XP_011530965.1:n.474+8678G>A | |
| XM_011532664.2:c.639+8678G>A | XP_011530966.1:n.639+8678G>A | |
| XM_017003526.1:c.639+8678G>A | XP_016859015.1:n.639+8678G>A | |
| XR_001738657.1:n.916+8678G>A | ||
| NR_135490.2:n.870+8678G>A | ||
| NM_022552.5:c.639+8678G>A MANE Select | NP_072046.2:n.639+8678G>A |