Linked Data
ClinVar Variation Id:
66858
dbSNP Id:
rs267607547
gnomAD v2:
1-156107455-T-C
gnomAD v4:
1-156137664-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137664T>C , CM000663.2:g.156137664T>C | GRCh38 |
| NC_000001.10:g.156107455T>C , CM000663.1:g.156107455T>C | GRCh37 |
| NC_000001.9:g.154374079T>C | NCBI36 |
| NG_008692.2:g.60092T>C , LRG_254:g.60092T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504687.7:c.1061T>C | ENSP00000426535.3:p.Met354Thr | |
| ENST00000498722.3:n.851T>C | ||
| ENST00000682650.1:c.1608+432T>C | ENSP00000506904.1:n.1608+432T>C | |
| ENST00000683032.1:c.1619T>C | ENSP00000506771.1:p.Met540Thr | |
| ENST00000684195.1:c.1590T>C | ENSP00000508220.1:p.His530= | |
| ENST00000361308.9:c.1619T>C | ENSP00000355292.6:p.Met540Thr | |
| ENST00000368300.9:c.1619T>C MANE Select | ENSP00000357283.4:p.Met540Thr | |
| ENST00000496738.6:n.2078T>C | ||
| ENST00000674518.1:c.*969T>C | ENSP00000502261.1:n.*969T>C | |
| ENST00000674600.1:c.*1418T>C | ENSP00000501666.1:n.*1418T>C | |
| ENST00000674720.1:c.*181T>C | ENSP00000502798.1:n.*181T>C | |
| ENST00000675431.1:n.1312T>C | ||
| ENST00000675455.1:c.*1419T>C | ENSP00000501795.1:n.*1419T>C | |
| ENST00000675667.1:c.1619T>C | ENSP00000501803.1:p.Met540Thr | |
| ENST00000675874.1:c.*1090T>C | ENSP00000501851.1:n.*1090T>C | |
| ENST00000675881.1:c.*630T>C | ENSP00000501670.1:n.*630T>C | |
| ENST00000675939.1:c.1619T>C | ENSP00000502256.1:p.Met540Thr | |
| ENST00000675989.1:n.2478T>C | ||
| ENST00000676208.1:c.*722T>C | ENSP00000502468.1:n.*722T>C | |
| ENST00000676283.1:n.2415T>C | ||
| ENST00000676385.2:c.1608+432T>C | ENSP00000502091.1:n.1608+432T>C | |
| ENST00000676434.1:c.*630T>C | ENSP00000501648.1:n.*630T>C | |
| ENST00000677389.1:c.1619T>C MANE Plus Clinical | ENSP00000503633.1:p.Met540Thr | |
| ENST00000347559.6:c.1608+432T>C | ENSP00000292304.3:n.1608+432T>C | |
| ENST00000361308.8:c.1364T>C | ENSP00000355292.5:p.Met455Thr | |
| ENST00000368297.5:c.1376T>C | ENSP00000357280.1:p.Met459Thr | |
| ENST00000368299.7:c.1619T>C | ENSP00000357282.3:p.Met540Thr | |
| ENST00000368300.8:c.1619T>C | ENSP00000357283.4:p.Met540Thr | |
| ENST00000368301.6:c.1619T>C | ENSP00000357284.2:p.Met540Thr | |
| ENST00000448611.6:c.1283T>C | ENSP00000395597.2:p.Met428Thr | |
| ENST00000473598.6:c.1322T>C | ENSP00000421821.1:p.Met441Thr | |
| ENST00000496738.5:n.1088T>C | ||
| ENST00000498722.2:n.851T>C | ||
| ENST00000506981.1:n.203T>C | ||
| ENST00000508500.1:c.486+432T>C | ENSP00000424977.1:n.486+432T>C | |
| NM_001257374.2:c.1283T>C | NP_001244303.1:p.Met428Thr | |
| NM_001282624.1:c.1376T>C | NP_001269553.1:p.Met459Thr | |
| NM_001282625.1:c.1619T>C | NP_001269554.1:p.Met540Thr | |
| NM_001282626.1:c.1619T>C | NP_001269555.1:p.Met540Thr | |
| NM_005572.3:c.1619T>C , LRG_254t1:c.1619T>C | NP_005563.1:p.Met540Thr | |
| NM_170707.3:c.1619T>C | NP_733821.1:p.Met540Thr | |
| NM_170708.3:c.1608+432T>C | NP_733822.1:n.1608+432T>C | |
| XM_011509533.1:c.1283T>C | XP_011507835.1:p.Met428Thr | |
| XM_011509534.1:c.995T>C | XP_011507836.1:p.Met332Thr | |
| XR_921781.1:n.1908T>C | ||
| XM_011509534.2:c.995T>C | XP_011507836.1:p.Met332Thr | |
| XR_921781.2:n.1906T>C | ||
| NM_170707.4:c.1619T>C MANE Select | NP_733821.1:p.Met540Thr | |
| NM_001257374.3:c.1283T>C | NP_001244303.1:p.Met428Thr | |
| NM_001282626.2:c.1619T>C | NP_001269555.1:p.Met540Thr | |
| NM_001282624.2:c.1376T>C | NP_001269553.1:p.Met459Thr | |
| NM_001282625.2:c.1619T>C | NP_001269554.1:p.Met540Thr | |
| NM_005572.4:c.1619T>C MANE Plus Clinical | NP_005563.1:p.Met540Thr | |
| NM_170708.4:c.1608+432T>C | NP_733822.1:n.1608+432T>C |