Linked Data
ClinVar Variation Id:
18274
ClinVar RCV Id:
RCV001787814
dbSNP Id:
rs4961
ExAC:
4:2906707 G / T
gnomAD v2:
4-2906707-G-T
gnomAD v3:
4-2904980-G-T
gnomAD v4:
4-2904980-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2904980G>T , CM000666.2:g.2904980G>T | GRCh38 |
| NC_000004.11:g.2906707G>T , CM000666.1:g.2906707G>T | GRCh37 |
| NC_000004.10:g.2876505G>T | NCBI36 |
| NG_012037.1:g.66124G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683351.1:c.1378G>T MANE Select | ENSP00000508142.1:p.Gly460Trp | |
| ENST00000651918.1:c.1378G>T | ENSP00000498269.1:p.Gly460Trp | |
| ENST00000264758.11:c.1378G>T | ENSP00000264758.6:p.Gly460Trp | |
| ENST00000355842.7:c.1378G>T | ENSP00000348100.3:p.Gly460Trp | |
| ENST00000398123.6:c.1378G>T | ENSP00000381191.2:p.Gly460Trp | |
| ENST00000398125.5:c.1378G>T | ENSP00000381193.1:p.Gly460Trp | |
| ENST00000398129.5:c.1378G>T | ENSP00000381197.1:p.Gly460Trp | |
| ENST00000446856.5:c.*33G>T | ENSP00000399828.2:n.*33G>T | |
| ENST00000503169.5:n.1653G>T | ||
| ENST00000503455.6:c.1378G>T | ENSP00000423024.2:p.Gly460Trp | |
| ENST00000513328.6:c.1378G>T | ENSP00000421907.2:p.Gly460Trp | |
| ENST00000514940.5:c.495G>T | ||
| ENST00000536078.1:n.317G>T | ||
| NM_001119.4:c.1378G>T | NP_001110.2:p.Gly460Trp | |
| NM_001286645.1:c.1378G>T | NP_001273574.1:p.Gly460Trp | |
| NM_014189.3:c.1378G>T | NP_054908.2:p.Gly460Trp | |
| NM_014190.3:c.1378G>T | NP_054909.2:p.Gly460Trp | |
| NM_176801.2:c.1378G>T | NP_789771.1:p.Gly460Trp | |
| XM_005247933.1:c.1378G>T | XP_005247990.1:p.Gly460Trp | |
| XM_005247934.1:c.1378G>T | XP_005247991.1:p.Gly460Trp | |
| XM_005247935.1:c.1378G>T | XP_005247992.1:p.Gly460Trp | |
| XM_005247936.1:c.1378G>T | XP_005247993.1:p.Gly460Trp | |
| XM_005247937.1:c.1378G>T | XP_005247994.1:p.Gly460Trp | |
| NM_001354754.1:c.1378G>T | NP_001341683.1:p.Gly460Trp | |
| NM_001354755.1:c.1378G>T | NP_001341684.1:p.Gly460Trp | |
| NM_001354756.1:c.1378G>T | NP_001341685.1:p.Gly460Trp | |
| NM_001354757.1:c.1378G>T | NP_001341686.1:p.Gly460Trp | |
| NM_001354758.1:c.1378G>T | NP_001341687.1:p.Gly460Trp | |
| NM_001354759.1:c.1378G>T | NP_001341688.1:p.Gly460Trp | |
| NM_001354761.1:c.1378G>T | NP_001341690.1:p.Gly460Trp | |
| NM_001354762.1:c.1378G>T | NP_001341691.1:p.Gly460Trp | |
| XM_005247934.2:c.1378G>T | XP_005247991.1:p.Gly460Trp | |
| XM_017007703.1:c.1378G>T | XP_016863192.1:p.Gly460Trp | |
| XM_017007704.1:c.1378G>T | XP_016863193.1:p.Gly460Trp | |
| XM_017007705.1:c.1378G>T | XP_016863194.1:p.Gly460Trp | |
| XM_017007706.2:c.1378G>T | XP_016863195.1:p.Gly460Trp | |
| XM_017007709.2:c.1378G>T | XP_016863198.1:p.Gly460Trp | |
| XM_024453887.1:c.1378G>T | XP_024309655.1:p.Gly460Trp | |
| XR_002959706.1:n.1444G>T | ||
| XR_002959707.1:n.1655G>T | ||
| NM_001119.5:c.1378G>T | NP_001110.2:p.Gly460Trp | |
| NM_001354754.2:c.1378G>T | NP_001341683.1:p.Gly460Trp | |
| NM_001354756.2:c.1378G>T | NP_001341685.1:p.Gly460Trp | |
| NM_001354757.2:c.1378G>T | NP_001341686.1:p.Gly460Trp | |
| NM_001354759.2:c.1378G>T | NP_001341688.1:p.Gly460Trp | |
| NM_001354761.2:c.1378G>T MANE Select | NP_001341690.1:p.Gly460Trp | |
| NM_001354762.2:c.1378G>T | NP_001341691.1:p.Gly460Trp | |
| NM_014190.4:c.1378G>T | NP_054909.2:p.Gly460Trp | |
| NM_001286645.2:c.1378G>T | NP_001273574.1:p.Gly460Trp | |
| NM_001354755.2:c.1378G>T | NP_001341684.1:p.Gly460Trp | |
| NM_001354758.2:c.1378G>T | NP_001341687.1:p.Gly460Trp | |
| NM_014189.4:c.1378G>T | NP_054908.2:p.Gly460Trp | |
| NM_176801.3:c.1378G>T | NP_789771.1:p.Gly460Trp |