Linked Data
dbSNP Id:
rs944043705
gnomAD v2:
5-55438593-C-T
gnomAD v3:
5-56142766-C-T
gnomAD v4:
5-56142766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56142766C>T , CM000667.2:g.56142766C>T | GRCh38 |
| NC_000005.9:g.55438593C>T , CM000667.1:g.55438593C>T | GRCh37 |
| NC_000005.8:g.55474350C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341048.9:c.612+1035G>A MANE Select | ENSP00000342295.4:n.612+1035G>A | |
| ENST00000341048.8:c.612+1035G>A | ENSP00000342295.4:n.612+1035G>A | |
| ENST00000504958.6:c.484-15660G>A | ENSP00000424230.1:n.484-15660G>A | |
| ENST00000505970.2:n.382+1035G>A | ||
| NM_024669.2:c.612+1035G>A | NP_078945.2:n.612+1035G>A | |
| XM_006714691.2:c.126+1035G>A | XP_006714754.1:n.126+1035G>A | |
| XM_011543646.1:c.-65+1035G>A | XP_011541948.1:n.-65+1035G>A | |
| XM_017009852.1:c.612+1035G>A | XP_016865341.1:n.612+1035G>A | |
| XM_017009853.1:c.612+1035G>A | XP_016865342.1:n.612+1035G>A | |
| XM_017009854.1:c.126+1035G>A | XP_016865343.1:n.126+1035G>A | |
| NM_024669.3:c.612+1035G>A MANE Select | NP_078945.2:n.612+1035G>A |