Linked Data
dbSNP Id:
rs13128441
gnomAD v2:
4-5162389-C-T
gnomAD v3:
4-5160662-C-T
gnomAD v4:
4-5160662-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5160662C>T , CM000666.2:g.5160662C>T | GRCh38 |
| NC_000004.11:g.5162389C>T , CM000666.1:g.5162389C>T | GRCh37 |
| NC_000004.10:g.5213290C>T | NCBI36 |
| NG_051593.1:g.114340C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282908.10:c.109-7637C>T MANE Select | ENSP00000282908.5:n.109-7637C>T | |
| ENST00000282908.9:c.109-7637C>T | ENSP00000282908.5:n.109-7637C>T | |
| ENST00000510398.1:c.-33-7637C>T | ENSP00000420984.1:n.-33-7637C>T | |
| ENST00000512018.5:c.*63-7637C>T | ENSP00000422820.1:n.*63-7637C>T | |
| ENST00000512636.5:c.-33-7637C>T | ENSP00000423209.1:n.-33-7637C>T | |
| NM_001306082.1:c.-33-7637C>T | NP_001293011.1:n.-33-7637C>T | |
| NM_018401.1:c.109-7637C>T | NP_060871.1:n.109-7637C>T | |
| NM_018401.2:c.109-7637C>T | NP_060871.1:n.109-7637C>T | |
| XM_011513497.1:c.109-7637C>T | XP_011511799.1:n.109-7637C>T | |
| XM_011513498.1:c.109-7637C>T | XP_011511800.1:n.109-7637C>T | |
| XM_011513499.1:c.109-7637C>T | XP_011511801.1:n.109-7637C>T | |
| XM_011513500.1:c.109-7637C>T | XP_011511802.1:n.109-7637C>T | |
| XM_011513502.1:c.109-7637C>T | XP_011511804.1:n.109-7637C>T | |
| NM_001345969.1:c.109-7637C>T | NP_001332898.1:n.109-7637C>T | |
| XM_017008374.1:c.-33-7637C>T | XP_016863863.1:n.-33-7637C>T | |
| XM_017008375.1:c.-33-7637C>T | XP_016863864.1:n.-33-7637C>T | |
| XM_017008376.1:c.-33-7637C>T | XP_016863865.1:n.-33-7637C>T | |
| XM_024454131.1:c.-33-7637C>T | XP_024309899.1:n.-33-7637C>T | |
| NM_018401.3:c.109-7637C>T MANE Select | NP_060871.1:n.109-7637C>T | |
| NM_001306082.2:c.-33-7637C>T | NP_001293011.1:n.-33-7637C>T | |
| NM_001345969.2:c.109-7637C>T | NP_001332898.1:n.109-7637C>T |