Linked Data
ClinVar Variation Id:
523482
dbSNP Id:
rs1332140763
gnomAD v2:
2-121746134-A-T
gnomAD v4:
2-120988558-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120988558A>T , CM000664.2:g.120988558A>T | GRCh38 |
| NC_000002.11:g.121746134A>T , CM000664.1:g.121746134A>T | GRCh37 |
| NC_000002.10:g.121462604A>T | NCBI36 |
| NG_009030.1:g.196268A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.2593A>T MANE Select | ENSP00000354586.5:p.Thr865Ser | |
| ENST00000452319.6:c.2644A>T | ENSP00000390436.1:p.Thr882Ser | |
| ENST00000341310.10:c.*1692A>T | ENSP00000344473.6:n.*1692A>T | |
| ENST00000361492.8:c.2644A>T | ENSP00000354586.4:p.Thr882Ser | |
| ENST00000438299.5:c.*1743A>T | ENSP00000400593.1:n.*1743A>T | |
| ENST00000445186.5:c.*1743A>T | ENSP00000397488.1:n.*1743A>T | |
| ENST00000452319.5:c.2644A>T | ENSP00000390436.1:p.Thr882Ser | |
| ENST00000452692.5:c.*1692A>T | ENSP00000403715.1:n.*1692A>T | |
| NM_005270.4:c.2644A>T | NP_005261.2:p.Thr882Ser | |
| XM_006712422.1:c.2593A>T | XP_006712485.1:p.Thr865Ser | |
| XM_011510969.1:c.2626A>T | XP_011509271.1:p.Thr876Ser | |
| XM_011510970.1:c.2503A>T | XP_011509272.1:p.Thr835Ser | |
| XM_011510971.1:c.2449A>T | XP_011509273.1:p.Thr817Ser | |
| XM_011510972.1:c.2449A>T | XP_011509274.1:p.Thr817Ser | |
| XM_011510973.1:c.2269A>T | XP_011509275.1:p.Thr757Ser | |
| XM_011510974.1:c.2218A>T | XP_011509276.1:p.Thr740Ser | |
| XM_006712422.3:c.2593A>T | XP_006712485.1:p.Thr865Ser | |
| XM_011510969.2:c.2896A>T | XP_011509271.2:p.Thr966Ser | |
| XM_011510970.2:c.2503A>T | XP_011509272.1:p.Thr835Ser | |
| XM_011510971.2:c.2449A>T | XP_011509273.1:p.Thr817Ser | |
| XM_011510972.2:c.2545A>T | XP_011509274.2:p.Thr849Ser | |
| XM_011510973.2:c.2269A>T | XP_011509275.1:p.Thr757Ser | |
| XM_011510974.2:c.2218A>T | XP_011509276.1:p.Thr740Ser | |
| XM_017003818.1:c.2845A>T | XP_016859307.1:p.Thr949Ser | |
| XM_024452794.1:c.2644A>T | XP_024308562.1:p.Thr882Ser | |
| XM_024452795.1:c.2644A>T | XP_024308563.1:p.Thr882Ser | |
| NM_001371271.1:c.2644A>T | NP_001358200.1:p.Thr882Ser | |
| NM_001374353.1:c.2593A>T MANE Select | NP_001361282.1:p.Thr865Ser | |
| NM_001374354.1:c.2218A>T | NP_001361283.1:p.Thr740Ser | |
| NM_005270.5:c.2644A>T | NP_005261.2:p.Thr882Ser |