COSMIC:
COSM1325956 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02959118 (NFE)
Genomes Max Group AF
0.02817516 (NFE)
Exomes Max Group AF
0.02961956 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120984731C>T , CM000664.2:g.120984731C>T | GRCh38 |
| NC_000002.11:g.121742307C>T , CM000664.1:g.121742307C>T | GRCh37 |
| NC_000002.10:g.121458777C>T | NCBI36 |
| NG_009030.1:g.192441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1893C>T MANE Select | ENSP00000354586.5:p.Thr631= | |
| ENST00000452319.6:c.1944C>T | ENSP00000390436.1:p.Thr648= | |
| ENST00000314490.15:c.957C>T | ENSP00000312694.12:p.Thr319= | |
| ENST00000341310.10:c.*992C>T | ENSP00000344473.6:n.*992C>T | |
| ENST00000361492.8:c.1944C>T | ENSP00000354586.4:p.Thr648= | |
| ENST00000435313.6:n.1918C>T | ||
| ENST00000437950.5:c.*1043C>T | ENSP00000415773.1:n.*1043C>T | |
| ENST00000438299.5:c.*1043C>T | ENSP00000400593.1:n.*1043C>T | |
| ENST00000445186.5:c.*1043C>T | ENSP00000397488.1:n.*1043C>T | |
| ENST00000452319.5:c.1944C>T | ENSP00000390436.1:p.Thr648= | |
| ENST00000452692.5:c.*992C>T | ENSP00000403715.1:n.*992C>T | |
| NM_005270.4:c.1944C>T | NP_005261.2:p.Thr648= | |
| XM_006712422.1:c.1893C>T | XP_006712485.1:p.Thr631= | |
| XM_011510969.1:c.1926C>T | XP_011509271.1:p.Thr642= | |
| XM_011510970.1:c.1803C>T | XP_011509272.1:p.Thr601= | |
| XM_011510971.1:c.1749C>T | XP_011509273.1:p.Thr583= | |
| XM_011510972.1:c.1749C>T | XP_011509274.1:p.Thr583= | |
| XM_011510973.1:c.1569C>T | XP_011509275.1:p.Thr523= | |
| XM_011510974.1:c.1518C>T | XP_011509276.1:p.Thr506= | |
| XM_006712422.3:c.1893C>T | XP_006712485.1:p.Thr631= | |
| XM_011510969.2:c.2196C>T | XP_011509271.2:p.Thr732= | |
| XM_011510970.2:c.1803C>T | XP_011509272.1:p.Thr601= | |
| XM_011510971.2:c.1749C>T | XP_011509273.1:p.Thr583= | |
| XM_011510972.2:c.1845C>T | XP_011509274.2:p.Thr615= | |
| XM_011510973.2:c.1569C>T | XP_011509275.1:p.Thr523= | |
| XM_011510974.2:c.1518C>T | XP_011509276.1:p.Thr506= | |
| XM_017003818.1:c.2145C>T | XP_016859307.1:p.Thr715= | |
| XM_024452794.1:c.1944C>T | XP_024308562.1:p.Thr648= | |
| XM_024452795.1:c.1944C>T | XP_024308563.1:p.Thr648= | |
| NM_001371271.1:c.1944C>T | NP_001358200.1:p.Thr648= | |
| NM_001374353.1:c.1893C>T MANE Select | NP_001361282.1:p.Thr631= | |
| NM_001374354.1:c.1518C>T | NP_001361283.1:p.Thr506= | |
| NM_005270.5:c.1944C>T | NP_005261.2:p.Thr648= |