Linked Data
dbSNP Id:
rs747164832
ExAC:
4:52894232 T / TTA
gnomAD v2:
4-52894232-T-TTA
gnomAD v3:
4-52028066-T-TTA
gnomAD v4:
4-52028066-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028070_52028071dup , CM000666.2:g.52028070_52028071dup | GRCh38 |
| NC_000004.11:g.52894236_52894237dup , CM000666.1:g.52894236_52894237dup | GRCh37 |
| NC_000004.10:g.52588993_52588994dup | NCBI36 |
| NG_008891.1:g.15252_15253dup , LRG_204:g.15252_15253dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.653_654dup MANE Select | ENSP00000370839.6:p.Lys219Ter | |
| ENST00000381431.9:c.653_654dup | ENSP00000370839.5:p.Lys219Ter | |
| NM_000232.4:c.653_654dup , LRG_204t1:c.653_654dup | NP_000223.1:p.Lys219Ter | |
| XM_006714049.2:c.356_357dup | XP_006714112.1:p.Lys120Ter | |
| XM_011534403.1:c.443_444dup | XP_011532705.1:p.Lys149Ter | |
| XM_011534404.1:c.356_357dup | XP_011532706.1:p.Lys120Ter | |
| NM_000232.5:c.653_654dup MANE Select | NP_000223.1:p.Lys219Ter |