Linked Data
ClinVar Variation Id:
178639
dbSNP Id:
rs77321498
ExAC:
9:71840972 C / T
gnomAD v2:
9-71840972-C-T
gnomAD v3:
9-69226056-C-T
gnomAD v4:
9-69226056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69226056C>T , CM000671.2:g.69226056C>T | GRCh38 |
| NC_000009.11:g.71840972C>T , CM000671.1:g.71840972C>T | GRCh37 |
| NC_000009.10:g.71030792C>T | NCBI36 |
| NG_016342.1:g.109749C>T | |
| NG_016342.2:g.130150C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.1091C>T | ENSP00000345893.4:p.Thr364Met | |
| ENST00000377245.9:c.1091C>T MANE Select | ENSP00000366453.4:p.Thr364Met | |
| ENST00000535702.6:c.1103C>T | ENSP00000442090.1:p.Thr368Met | |
| ENST00000539225.2:c.1184C>T | ENSP00000438262.1:p.Thr395Met | |
| ENST00000636247.1:n.1170C>T | ||
| ENST00000636438.1:c.1268C>T | ENSP00000489860.1:p.Thr423Met | |
| ENST00000642889.1:c.1478C>T | ENSP00000493780.1:p.Thr493Met | |
| ENST00000643352.1:c.*1279C>T | ENSP00000496488.1:n.*1279C>T | |
| ENST00000645088.1:c.*1398C>T | ENSP00000495447.1:n.*1398C>T | |
| ENST00000647986.1:c.1022C>T | ENSP00000496877.1:p.Thr341Met | |
| ENST00000648087.1:n.1408C>T | ||
| ENST00000648153.1:n.234C>T | ||
| ENST00000649114.1:c.1091C>T | ENSP00000497328.1:p.Thr364Met | |
| ENST00000649134.1:c.1103C>T | ENSP00000498068.1:p.Thr368Met | |
| ENST00000649783.1:n.1115C>T | ||
| ENST00000649943.1:c.1091C>T | ENSP00000497539.1:p.Thr364Met | |
| ENST00000650084.1:c.1094C>T | ENSP00000497861.1:p.Thr365Met | |
| ENST00000650333.1:c.1022C>T | ENSP00000496791.1:p.Thr341Met | |
| ENST00000650460.1:c.364C>T | ||
| ENST00000650522.1:n.977-3128C>T | ||
| ENST00000265384.11:c.1091C>T | ENSP00000265384.7:p.Thr364Met | |
| ENST00000348208.8:c.1091C>T | ENSP00000345893.4:p.Thr364Met | |
| ENST00000377245.8:c.1091C>T | ENSP00000366453.4:p.Thr364Met | |
| ENST00000453658.6:c.1022C>T | ENSP00000392178.2:p.Thr341Met | |
| ENST00000535702.5:c.1103C>T | ENSP00000442090.1:p.Thr368Met | |
| ENST00000539225.1:c.1184C>T | ENSP00000438262.1:p.Thr395Met | |
| NM_001170414.2:c.1022C>T | NP_001163885.1:p.Thr341Met | |
| NM_001170415.1:c.1103C>T | NP_001163886.1:p.Thr368Met | |
| NM_001170416.1:c.1184C>T | NP_001163887.1:p.Thr395Met | |
| NM_001170630.1:c.1091C>T | NP_001164101.1:p.Thr364Met | |
| NM_004817.3:c.1091C>T | NP_004808.2:p.Thr364Met | |
| NM_201629.3:c.1091C>T | NP_963923.1:p.Thr364Met | |
| XM_005252314.1:c.1103C>T | XP_005252371.1:p.Thr368Met | |
| XM_006717324.2:c.1085C>T | XP_006717387.1:p.Thr362Met | |
| XM_011519204.1:c.1022C>T | XP_011517506.1:p.Thr341Met | |
| XM_011519205.1:c.1022C>T | XP_011517507.1:p.Thr341Met | |
| XM_011519206.1:c.1022C>T | XP_011517508.1:p.Thr341Met | |
| XM_011519207.1:c.1022C>T | XP_011517509.1:p.Thr341Met | |
| XM_011519208.1:c.1022C>T | XP_011517510.1:p.Thr341Met | |
| XM_011519209.1:c.1022C>T | XP_011517511.1:p.Thr341Met | |
| NM_004817.4:c.1091C>T MANE Select | NP_004808.2:p.Thr364Met | |
| XM_005252314.2:c.1103C>T | XP_005252371.1:p.Thr368Met | |
| XM_011519206.2:c.1022C>T | XP_011517508.1:p.Thr341Met | |
| XM_011519207.2:c.1022C>T | XP_011517509.1:p.Thr341Met | |
| XM_011519208.2:c.1022C>T | XP_011517510.1:p.Thr341Met | |
| XM_011519209.2:c.1022C>T | XP_011517511.1:p.Thr341Met | |
| XM_017015327.2:c.1091C>T | XP_016870816.1:p.Thr364Met | |
| XM_017015328.1:c.1103C>T | XP_016870817.1:p.Thr368Met | |
| NM_001170416.2:c.1184C>T | NP_001163887.1:p.Thr395Met | |
| NM_001369870.1:c.1022C>T | NP_001356799.1:p.Thr341Met | |
| NM_001369871.1:c.1022C>T | NP_001356800.1:p.Thr341Met | |
| NM_001369872.1:c.1091C>T | NP_001356801.1:p.Thr364Met | |
| NM_001369873.1:c.1091C>T | NP_001356802.1:p.Thr364Met | |
| NM_001369874.1:c.1103C>T | NP_001356803.1:p.Thr368Met | |
| NM_001369875.1:c.1103C>T | NP_001356804.1:p.Thr368Met |