Linked Data
ClinVar Variation Id:
435945
ClinVar RCV Id:
RCV000500740
dbSNP Id:
rs767336817
ExAC:
5:149907481 C / T
gnomAD v2:
5-149907481-C-T
gnomAD v3:
5-150527919-C-T
gnomAD v4:
5-150527919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150527919C>T , CM000667.2:g.150527919C>T | GRCh38 |
| NC_000005.9:g.149907481C>T , CM000667.1:g.149907481C>T | GRCh37 |
| NC_000005.8:g.149887674C>T | NCBI36 |
| NG_041806.1:g.35142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261797.7:c.629C>T MANE Select | ENSP00000261797.6:p.Thr210Met | |
| ENST00000261797.6:c.629C>T | ENSP00000261797.6:p.Thr210Met | |
| ENST00000523767.5:c.629C>T | ENSP00000428604.1:p.Thr210Met | |
| NM_001301063.1:c.629C>T | NP_001287992.1:p.Thr210Met | |
| NM_001543.4:c.629C>T | NP_001534.1:p.Thr210Met | |
| XM_005268433.1:c.629C>T | XP_005268490.1:p.Thr210Met | |
| XM_005268434.1:c.629C>T | XP_005268491.1:p.Thr210Met | |
| XM_005268435.3:c.629C>T | XP_005268492.1:p.Thr210Met | |
| XM_005268436.2:c.629C>T | XP_005268493.1:p.Thr210Met | |
| XM_005268437.3:c.629C>T | XP_005268494.1:p.Thr210Met | |
| XM_005268438.1:c.629C>T | XP_005268495.1:p.Thr210Met | |
| XM_005268439.1:c.629C>T | XP_005268496.1:p.Thr210Met | |
| XM_005268441.1:c.629C>T | XP_005268498.1:p.Thr210Met | |
| XM_006714782.1:c.629C>T | XP_006714845.1:p.Thr210Met | |
| XM_006714783.1:c.629C>T | XP_006714846.1:p.Thr210Met | |
| XM_011537638.1:c.-359C>T | XP_011535940.1:n.-359C>T | |
| XR_245854.1:n.1103C>T | ||
| XM_005268434.2:c.629C>T | XP_005268491.1:p.Thr210Met | |
| XM_005268435.4:c.629C>T | XP_005268492.1:p.Thr210Met | |
| XM_005268436.3:c.629C>T | XP_005268493.1:p.Thr210Met | |
| XM_005268437.5:c.629C>T | XP_005268494.1:p.Thr210Met | |
| XM_005268442.4:c.-648C>T | XP_005268499.1:n.-648C>T | |
| XM_006714782.2:c.629C>T | XP_006714845.1:p.Thr210Met | |
| XM_011537638.2:c.-359C>T | XP_011535940.1:n.-359C>T | |
| XM_017009427.1:c.629C>T | XP_016864916.1:p.Thr210Met | |
| XM_017009428.1:c.629C>T | XP_016864917.1:p.Thr210Met | |
| XM_017009429.2:c.629C>T | XP_016864918.1:p.Thr210Met | |
| XM_017009430.2:c.629C>T | XP_016864919.1:p.Thr210Met | |
| XM_017009431.1:c.629C>T | XP_016864920.1:p.Thr210Met | |
| XM_017009432.1:c.-359C>T | XP_016864921.1:n.-359C>T | |
| XM_017009433.1:c.-359C>T | XP_016864922.1:n.-359C>T | |
| XR_001742060.2:n.1133C>T | ||
| XR_001742061.1:n.1722C>T | ||
| XR_245854.2:n.1103C>T | ||
| NM_001543.5:c.629C>T MANE Select | NP_001534.1:p.Thr210Met | |
| NM_001301063.2:c.629C>T | NP_001287992.1:p.Thr210Met |