Linked Data
ClinVar Variation Id:
229060
dbSNP Id:
rs371666396
ExAC:
1:78392577 G / T
gnomAD v2:
1-78392577-G-T
gnomAD v3:
1-77926892-G-T
gnomAD v4:
1-77926892-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77926892G>T , CM000663.2:g.77926892G>T | GRCh38 |
| NC_000001.10:g.78392577G>T , CM000663.1:g.78392577G>T | GRCh37 |
| NC_000001.9:g.78165165G>T | NCBI36 |
| NG_016625.1:g.43378G>T , LRG_442:g.43378G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.864G>T MANE Select | ENSP00000333938.7:p.Met288Ile | |
| ENST00000330010.12:c.672G>T | ENSP00000327363.8:p.Met224Ile | |
| ENST00000334785.11:c.864G>T | ENSP00000333938.7:p.Met288Ile | |
| ENST00000342754.5:c.563G>T | ||
| ENST00000401035.7:c.672G>T | ENSP00000383814.3:p.Met224Ile | |
| ENST00000440324.5:c.822G>T | ENSP00000411902.1:p.Met274Ile | |
| ENST00000464998.1:n.324G>T | ||
| NM_001172309.1:c.672G>T | NP_001165780.1:p.Met224Ile | |
| NM_144573.3:c.864G>T , LRG_442t1:c.864G>T | NP_653174.3:p.Met288Ile | |
| XM_005271322.2:c.864G>T | XP_005271379.1:p.Met288Ile | |
| XM_005271323.2:c.822G>T | XP_005271380.1:p.Met274Ile | |
| XM_005271324.3:c.672G>T | XP_005271381.1:p.Met224Ile | |
| XM_005271325.2:c.864G>T | XP_005271382.1:p.Met288Ile | |
| XM_005271326.2:c.630G>T | XP_005271383.1:p.Met210Ile | |
| XM_005271327.2:c.448-2424G>T | XP_005271384.1:n.448-2424G>T | |
| XM_005271322.4:c.864G>T | XP_005271379.1:p.Met288Ile | |
| XM_005271323.4:c.822G>T | XP_005271380.1:p.Met274Ile | |
| XM_005271324.5:c.672G>T | XP_005271381.1:p.Met224Ile | |
| XM_005271325.4:c.864G>T | XP_005271382.1:p.Met288Ile | |
| XM_005271326.4:c.630G>T | XP_005271383.1:p.Met210Ile | |
| XM_005271327.4:c.448-2424G>T | XP_005271384.1:n.448-2424G>T | |
| NM_001172309.2:c.672G>T | NP_001165780.1:p.Met224Ile | |
| NM_144573.4:c.864G>T MANE Select | NP_653174.3:p.Met288Ile |