Linked Data
ClinVar Variation Id:
16267
ClinVar RCV Id:
RCV000017655
dbSNP Id:
rs121909656
PubMed:
PMID:16924388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180614083C>T , CM000667.2:g.180614083C>T | GRCh38 |
| NC_000005.9:g.180041083C>T , CM000667.1:g.180041083C>T | GRCh37 |
| NC_000005.8:g.179973689C>T | NCBI36 |
| NG_011536.1:g.40542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3316G>A MANE Select | ENSP00000261937.6:p.Glu1106Lys | |
| ENST00000261937.10:c.3316G>A | ENSP00000261937.6:p.Glu1106Lys | |
| ENST00000393347.7:c.3316G>A | ENSP00000377016.3:p.Glu1106Lys | |
| ENST00000502649.5:c.3316G>A | ENSP00000426057.1:p.Glu1106Lys | |
| ENST00000507059.5:n.2709G>A | ||
| ENST00000514810.1:n.683G>A | ||
| ENST00000619105.4:c.*2259G>A | ENSP00000481134.1:n.*2259G>A | |
| NM_002020.4:c.3316G>A | NP_002011.2:p.Glu1106Lys | |
| NM_182925.4:c.3316G>A | NP_891555.2:p.Glu1106Lys | |
| XM_011534477.1:c.3565G>A | XP_011532779.1:p.Glu1189Lys | |
| XM_011534478.1:c.3547G>A | XP_011532780.1:p.Glu1183Lys | |
| XM_011534479.1:c.3565G>A | XP_011532781.1:p.Glu1189Lys | |
| XM_011534480.1:c.3565G>A | XP_011532782.1:p.Glu1189Lys | |
| XM_011534481.1:c.3565G>A | XP_011532783.1:p.Glu1189Lys | |
| XM_011534482.1:c.3334G>A | XP_011532784.1:p.Glu1112Lys | |
| XM_011534483.1:c.3256G>A | XP_011532785.1:p.Glu1086Lys | |
| XM_011534484.1:c.2857G>A | XP_011532786.1:p.Glu953Lys | |
| XR_941095.1:n.3577G>A | ||
| NM_001354989.1:c.3316G>A | NP_001341918.1:p.Glu1106Lys | |
| XM_011534478.3:c.3547G>A | XP_011532780.1:p.Glu1183Lys | |
| XM_011534484.2:c.2857G>A | XP_011532786.1:p.Glu953Lys | |
| XM_017009263.1:c.3547G>A | XP_016864752.1:p.Glu1183Lys | |
| XM_017009264.2:c.3547G>A | XP_016864753.1:p.Glu1183Lys | |
| XM_017009265.1:c.3547G>A | XP_016864754.1:p.Glu1183Lys | |
| XM_017009266.1:c.3547G>A | XP_016864755.1:p.Glu1183Lys | |
| XM_017009267.2:c.3547G>A | XP_016864756.1:p.Glu1183Lys | |
| XM_017009268.1:c.3238G>A | XP_016864757.1:p.Glu1080Lys | |
| XR_001742050.2:n.3781G>A | ||
| NM_182925.5:c.3316G>A MANE Select | NP_891555.2:p.Glu1106Lys | |
| NM_001354989.2:c.3316G>A | NP_001341918.1:p.Glu1106Lys | |
| NM_002020.5:c.3316G>A | NP_002011.2:p.Glu1106Lys |