Linked Data
ClinVar Variation Id:
423806
dbSNP Id:
rs370090905
ExAC:
9:138683703 C / T
gnomAD v2:
9-138683703-C-T
gnomAD v3:
9-135791857-C-T
gnomAD v4:
9-135791857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135791857C>T , CM000671.2:g.135791857C>T | GRCh38 |
| NC_000009.11:g.138683703C>T , CM000671.1:g.138683703C>T | GRCh37 |
| NC_000009.10:g.137823524C>T | NCBI36 |
| NG_033070.1:g.94673C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.3563C>T MANE Select | ENSP00000360822.2:p.Thr1188Met | |
| ENST00000674572.1:c.3467C>T | ENSP00000501742.1:p.Thr1156Met | |
| ENST00000675090.1:c.3311C>T | ENSP00000501833.1:p.Thr1104Met | |
| ENST00000675399.1:c.3374C>T | ENSP00000501932.1:p.Thr1125Met | |
| ENST00000676421.1:c.3383C>T | ENSP00000502322.1:p.Thr1128Met | |
| ENST00000263604.5:c.3527C>T | ENSP00000263604.4:p.Thr1176Met | |
| ENST00000371757.6:c.3563C>T | ENSP00000360822.2:p.Thr1188Met | |
| ENST00000460750.5:c.*3236C>T | ENSP00000418777.1:n.*3236C>T | |
| ENST00000475008.1:n.2869C>T | ||
| ENST00000486577.6:c.3509C>T | ENSP00000417578.3:p.Thr1170Met | |
| ENST00000487664.5:c.3626C>T | ENSP00000417851.2:p.Thr1209Met | |
| ENST00000488444.6:c.3548C>T | ENSP00000419007.3:p.Thr1183Met | |
| ENST00000490355.6:c.3563C>T | ENSP00000418003.3:p.Thr1188Met | |
| ENST00000491806.6:c.3506C>T | ENSP00000419086.3:p.Thr1169Met | |
| ENST00000628528.2:c.3491C>T | ENSP00000486374.1:p.Thr1164Met | |
| ENST00000630792.2:c.3461C>T | ENSP00000486486.1:p.Thr1154Met | |
| ENST00000631073.2:c.3569C>T | ENSP00000486130.1:p.Thr1190Met | |
| NM_001272003.1:c.3491C>T | NP_001258932.1:p.Thr1164Met | |
| NM_020822.2:c.3563C>T | NP_065873.2:p.Thr1188Met | |
| XM_011518877.1:c.3761C>T | XP_011517179.1:p.Thr1254Met | |
| XM_011518878.1:c.3707C>T | XP_011517180.1:p.Thr1236Met | |
| XM_011518879.1:c.3698C>T | XP_011517181.1:p.Thr1233Met | |
| XM_011518880.1:c.3527C>T | XP_011517182.1:p.Thr1176Met | |
| XM_011518881.1:c.3116C>T | XP_011517183.1:p.Thr1039Met | |
| XM_011518877.3:c.3761C>T | XP_011517179.1:p.Thr1254Met | |
| XM_011518878.3:c.3707C>T | XP_011517180.1:p.Thr1236Met | |
| XM_011518879.3:c.3698C>T | XP_011517181.1:p.Thr1233Met | |
| XM_011518881.3:c.3116C>T | XP_011517183.1:p.Thr1039Met | |
| XM_017014931.1:c.3560C>T | XP_016870420.1:p.Thr1187Met | |
| XM_017014932.1:c.3383C>T | XP_016870421.1:p.Thr1128Met | |
| XM_017014933.1:c.3116C>T | XP_016870422.1:p.Thr1039Met | |
| XM_024447617.1:c.3116C>T | XP_024303385.1:p.Thr1039Met | |
| XM_024447618.1:c.3116C>T | XP_024303386.1:p.Thr1039Met | |
| NM_020822.3:c.3563C>T MANE Select | NP_065873.2:p.Thr1188Met | |
| NM_001272003.2:c.3491C>T | NP_001258932.1:p.Thr1164Met |