Linked Data
dbSNP Id:
rs6859219
gnomAD v2:
5-55438580-C-A
gnomAD v3:
5-56142753-C-A
gnomAD v4:
5-56142753-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56142753C>A , CM000667.2:g.56142753C>A | GRCh38 |
| NC_000005.9:g.55438580C>A , CM000667.1:g.55438580C>A | GRCh37 |
| NC_000005.8:g.55474337C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341048.9:c.612+1048G>T MANE Select | ENSP00000342295.4:n.612+1048G>T | |
| ENST00000341048.8:c.612+1048G>T | ENSP00000342295.4:n.612+1048G>T | |
| ENST00000504958.6:c.484-15647G>T | ENSP00000424230.1:n.484-15647G>T | |
| ENST00000505970.2:n.382+1048G>T | ||
| NM_024669.2:c.612+1048G>T | NP_078945.2:n.612+1048G>T | |
| XM_006714691.2:c.126+1048G>T | XP_006714754.1:n.126+1048G>T | |
| XM_011543646.1:c.-65+1048G>T | XP_011541948.1:n.-65+1048G>T | |
| XM_017009852.1:c.612+1048G>T | XP_016865341.1:n.612+1048G>T | |
| XM_017009853.1:c.612+1048G>T | XP_016865342.1:n.612+1048G>T | |
| XM_017009854.1:c.126+1048G>T | XP_016865343.1:n.126+1048G>T | |
| NM_024669.3:c.612+1048G>T MANE Select | NP_078945.2:n.612+1048G>T |