Linked Data
ClinVar Variation Id:
1331252
ClinVar RCV Id:
RCV001806597
dbSNP Id:
rs1806184554
COSMIC:
COSM396308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865233A>T , CM000670.2:g.60865233A>T | GRCh38 |
| NC_000008.10:g.61777792A>T , CM000670.1:g.61777792A>T | GRCh37 |
| NC_000008.9:g.61940346A>T | NCBI36 |
| NG_007009.1:g.191454A>T , LRG_176:g.191454A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1470A>T | ||
| ENST00000695852.1:n.401A>T | ||
| ENST00000695853.1:c.*1353A>T | ENSP00000512218.1:n.*1353A>T | |
| ENST00000423902.7:c.8294A>T MANE Select | ENSP00000392028.1:p.Gln2765Leu | |
| ENST00000423902.6:c.8294A>T | ENSP00000392028.1:p.Gln2765Leu | |
| ENST00000524602.5:c.2147A>T | ENSP00000437061.1:p.Gln716Leu | |
| ENST00000528280.1:n.340A>T | ||
| NM_001316690.1:c.2147A>T | NP_001303619.1:p.Gln716Leu | |
| NM_017780.3:c.8294A>T | NP_060250.2:p.Gln2765Leu | |
| XM_011517553.1:c.8384A>T | XP_011515855.1:p.Gln2795Leu | |
| XM_011517554.1:c.8384A>T | XP_011515856.1:p.Gln2795Leu | |
| XM_011517555.1:c.8381A>T | XP_011515857.1:p.Gln2794Leu | |
| XM_011517556.1:c.8162A>T | XP_011515858.1:p.Gln2721Leu | |
| XM_011517557.1:c.6371A>T | XP_011515859.1:p.Gln2124Leu | |
| XM_011517558.1:c.5921A>T | XP_011515860.1:p.Gln1974Leu | |
| XM_011517559.1:c.5129A>T | XP_011515861.1:p.Gln1710Leu | |
| XM_011517553.2:c.8384A>T | XP_011515855.1:p.Gln2795Leu | |
| XM_011517554.3:c.8384A>T | XP_011515856.1:p.Gln2795Leu | |
| XM_011517555.2:c.8381A>T | XP_011515857.1:p.Gln2794Leu | |
| XM_017013612.1:c.8384A>T | XP_016869101.1:p.Gln2795Leu | |
| XM_017013613.1:c.8291A>T | XP_016869102.1:p.Gln2764Leu | |
| NM_017780.4:c.8294A>T MANE Select | NP_060250.2:p.Gln2765Leu |