Linked Data
ClinVar Variation Id:
498559
dbSNP Id:
rs146392250
ExAC:
5:13820544 G / A
gnomAD v2:
5-13820544-G-A
gnomAD v3:
5-13820435-G-A
gnomAD v4:
5-13820435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13820435G>A , CM000667.2:g.13820435G>A | GRCh38 |
| NC_000005.9:g.13820544G>A , CM000667.1:g.13820544G>A | GRCh37 |
| NC_000005.8:g.13873544G>A | NCBI36 |
| NG_013081.1:g.129046C>T | |
| NG_013081.2:g.129046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683090.1:n.1683C>T | ||
| ENST00000265104.5:c.6752C>T MANE Select | ENSP00000265104.4:p.Thr2251Met | |
| ENST00000681290.1:c.6707C>T | ENSP00000505288.1:p.Thr2236Met | |
| ENST00000265104.4:c.6752C>T | ENSP00000265104.4:p.Thr2251Met | |
| NM_001369.2:c.6752C>T | NP_001360.1:p.Thr2251Met | |
| XM_005248262.2:c.6707C>T | XP_005248319.1:p.Thr2236Met | |
| XM_011513990.1:c.6752C>T | XP_011512292.1:p.Thr2251Met | |
| XR_925598.1:n.6959C>T | ||
| XM_005248262.3:c.6860C>T | XP_005248319.2:p.Thr2287Met | |
| XM_017009177.1:c.6860C>T | XP_016864666.1:p.Thr2287Met | |
| XM_017009178.1:c.5765C>T | XP_016864667.1:p.Thr1922Met | |
| XM_017009179.2:c.5765C>T | XP_016864668.1:p.Thr1922Met | |
| XM_017009180.1:c.6860C>T | XP_016864669.1:p.Thr2287Met | |
| XM_017009181.1:c.6860C>T | XP_016864670.1:p.Thr2287Met | |
| XM_017009182.1:c.6860C>T | XP_016864671.1:p.Thr2287Met | |
| XM_017009183.1:c.6860C>T | XP_016864672.1:p.Thr2287Met | |
| XM_017009184.1:c.6860C>T | XP_016864673.1:p.Thr2287Met | |
| XM_017009185.1:c.1949C>T | XP_016864674.1:p.Thr650Met | |
| XM_017009186.1:c.1502C>T | XP_016864675.1:p.Thr501Met | |
| XM_017009187.1:c.6860C>T | XP_016864676.1:p.Thr2287Met | |
| XM_017009188.1:c.839C>T | XP_016864677.1:p.Thr280Met | |
| XM_024454388.1:c.5765C>T | XP_024310156.1:p.Thr1922Met | |
| XM_024454389.1:c.5354C>T | XP_024310157.1:p.Thr1785Met | |
| XR_001742034.1:n.6877C>T | ||
| XR_001742035.1:n.6877C>T | ||
| NM_001369.3:c.6752C>T MANE Select | NP_001360.1:p.Thr2251Met |