Linked Data
ClinVar Variation Id:
221952
dbSNP Id:
rs142775128
ExAC:
2:121742222 C / T
gnomAD v2:
2-121742222-C-T
gnomAD v3:
2-120984646-C-T
gnomAD v4:
2-120984646-C-T
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120984646C>T , CM000664.2:g.120984646C>T | GRCh38 |
| NC_000002.11:g.121742222C>T , CM000664.1:g.121742222C>T | GRCh37 |
| NC_000002.10:g.121458692C>T | NCBI36 |
| NG_009030.1:g.192356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1808C>T MANE Select | ENSP00000354586.5:p.Thr603Met | |
| ENST00000452319.6:c.1859C>T | ENSP00000390436.1:p.Thr620Met | |
| ENST00000314490.15:c.872C>T | ENSP00000312694.12:p.Thr291Met | |
| ENST00000341310.10:c.*907C>T | ENSP00000344473.6:n.*907C>T | |
| ENST00000361492.8:c.1859C>T | ENSP00000354586.4:p.Thr620Met | |
| ENST00000435313.6:n.1833C>T | ||
| ENST00000437950.5:c.*958C>T | ENSP00000415773.1:n.*958C>T | |
| ENST00000438299.5:c.*958C>T | ENSP00000400593.1:n.*958C>T | |
| ENST00000445186.5:c.*958C>T | ENSP00000397488.1:n.*958C>T | |
| ENST00000452319.5:c.1859C>T | ENSP00000390436.1:p.Thr620Met | |
| ENST00000452692.5:c.*907C>T | ENSP00000403715.1:n.*907C>T | |
| NM_005270.4:c.1859C>T | NP_005261.2:p.Thr620Met | |
| XM_006712422.1:c.1808C>T | XP_006712485.1:p.Thr603Met | |
| XM_011510969.1:c.1841C>T | XP_011509271.1:p.Thr614Met | |
| XM_011510970.1:c.1718C>T | XP_011509272.1:p.Thr573Met | |
| XM_011510971.1:c.1664C>T | XP_011509273.1:p.Thr555Met | |
| XM_011510972.1:c.1664C>T | XP_011509274.1:p.Thr555Met | |
| XM_011510973.1:c.1484C>T | XP_011509275.1:p.Thr495Met | |
| XM_011510974.1:c.1433C>T | XP_011509276.1:p.Thr478Met | |
| XM_006712422.3:c.1808C>T | XP_006712485.1:p.Thr603Met | |
| XM_011510969.2:c.2111C>T | XP_011509271.2:p.Thr704Met | |
| XM_011510970.2:c.1718C>T | XP_011509272.1:p.Thr573Met | |
| XM_011510971.2:c.1664C>T | XP_011509273.1:p.Thr555Met | |
| XM_011510972.2:c.1760C>T | XP_011509274.2:p.Thr587Met | |
| XM_011510973.2:c.1484C>T | XP_011509275.1:p.Thr495Met | |
| XM_011510974.2:c.1433C>T | XP_011509276.1:p.Thr478Met | |
| XM_017003818.1:c.2060C>T | XP_016859307.1:p.Thr687Met | |
| XM_024452794.1:c.1859C>T | XP_024308562.1:p.Thr620Met | |
| XM_024452795.1:c.1859C>T | XP_024308563.1:p.Thr620Met | |
| NM_001371271.1:c.1859C>T | NP_001358200.1:p.Thr620Met | |
| NM_001374353.1:c.1808C>T MANE Select | NP_001361282.1:p.Thr603Met | |
| NM_001374354.1:c.1433C>T | NP_001361283.1:p.Thr478Met | |
| NM_005270.5:c.1859C>T | NP_005261.2:p.Thr620Met |