Linked Data
dbSNP Id:
rs17136627
gnomAD v2:
5-113798986-C-T
gnomAD v3:
5-114463289-C-T
gnomAD v4:
5-114463289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.114463289C>T , CM000667.2:g.114463289C>T | GRCh38 |
| NC_000005.9:g.113798986C>T , CM000667.1:g.113798986C>T | GRCh37 |
| NC_000005.8:g.113826885C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000512097.10:c.1977+99C>T | ENSP00000427120.4:n.1977+99C>T | |
| ENST00000512097.9:c.1977+99C>T | ENSP00000427120.4:n.1977+99C>T | |
| ENST00000631899.2:c.1181+99C>T | ||
| ENST00000673685.1:c.1779+99C>T MANE Select | ENSP00000501239.1:n.1779+99C>T | |
| ENST00000264773.7:c.1143+99C>T | ENSP00000264773.2:n.1143+99C>T | |
| ENST00000503706.5:c.99+99C>T | ENSP00000421439.1:n.99+99C>T | |
| ENST00000505491.1:c.99+99C>T | ENSP00000421095.1:n.99+99C>T | |
| ENST00000507750.5:n.393+99C>T | ||
| ENST00000512097.7:c.1143+99C>T | ENSP00000427120.3:n.1143+99C>T | |
| ENST00000610748.4:c.99+99C>T | ENSP00000483124.1:n.99+99C>T | |
| ENST00000631899.1:c.1143+99C>T | ENSP00000487849.1:n.1143+99C>T | |
| NM_001278204.1:c.99+99C>T | NP_001265133.1:n.99+99C>T | |
| NM_021614.3:c.1143+99C>T | NP_067627.2:n.1143+99C>T | |
| NM_170775.2:c.99+99C>T | NP_740721.1:n.99+99C>T | |
| NR_103458.1:n.542+99C>T | ||
| NR_130785.1:n.1539+6473G>A | ||
| XM_011543387.1:c.1977+99C>T | XP_011541689.1:n.1977+99C>T | |
| XM_011543388.1:c.1977+99C>T | XP_011541690.1:n.1977+99C>T | |
| XM_011543389.1:c.1977+99C>T | XP_011541691.1:n.1977+99C>T | |
| XM_017009457.1:c.231+99C>T | XP_016864946.1:n.231+99C>T | |
| NM_001372233.1:c.1977+99C>T | NP_001359162.1:n.1977+99C>T | |
| NM_021614.4:c.1779+99C>T MANE Select | NP_067627.3:n.1779+99C>T | |
| NM_170775.3:c.99+99C>T | NP_740721.1:n.99+99C>T | |
| NR_103458.2:n.561+99C>T | ||
| NM_001278204.2:c.99+99C>T | NP_001265133.1:n.99+99C>T | |
| NR_174097.1:n.1430+99C>T |