ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00159275 (NFE)
Genomes Max Group AF
0.00150721 (NFE)
Exomes Max Group AF
0.00158416 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18062298A>G , CM000670.2:g.18062298A>G | GRCh38 |
| NC_000008.10:g.17919807A>G , CM000670.1:g.17919807A>G | GRCh37 |
| NC_000008.9:g.17964087A>G | NCBI36 |
| NG_008985.1:g.27701T>C | |
| NG_008985.2:g.27701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.677T>C | ENSP00000371152.4:p.Met226Thr | |
| ENST00000517409.2:n.566T>C | ||
| ENST00000518746.2:n.1550T>C | ||
| ENST00000519545.6:n.646T>C | ||
| ENST00000520781.6:c.554T>C | ENSP00000427751.1:p.Met185Thr | |
| ENST00000635756.1:c.51T>C | ||
| ENST00000635944.1:c.*465T>C | ENSP00000490195.1:n.*465T>C | |
| ENST00000635998.1:c.629T>C | ENSP00000490506.1:p.Met210Thr | |
| ENST00000636009.1:c.486T>C | ENSP00000489988.1:n.486T>C | |
| ENST00000636033.1:c.*465T>C | ENSP00000489617.1:n.*465T>C | |
| ENST00000636050.1:c.*472T>C | ENSP00000490562.1:n.*472T>C | |
| ENST00000636128.1:c.383-840T>C | ENSP00000489789.1:n.383-840T>C | |
| ENST00000636160.1:c.*521T>C | ENSP00000489651.1:n.*521T>C | |
| ENST00000636171.1:c.572T>C | ENSP00000489761.1:p.Met191Thr | |
| ENST00000636455.1:c.677T>C | ENSP00000490502.1:p.Met226Thr | |
| ENST00000636494.1:c.*409T>C | ENSP00000490388.1:n.*409T>C | |
| ENST00000636563.1:n.291T>C | ||
| ENST00000636577.1:c.569T>C | ENSP00000490027.1:p.Met190Thr | |
| ENST00000636691.1:c.434T>C | ENSP00000490725.1:p.Met145Thr | |
| ENST00000636701.1:c.*280T>C | ENSP00000489800.1:n.*280T>C | |
| ENST00000636719.1:n.423T>C | ||
| ENST00000636815.1:c.546T>C | ||
| ENST00000636920.1:c.*465T>C | ENSP00000490437.1:n.*465T>C | |
| ENST00000636997.1:c.542T>C | ENSP00000490093.1:p.Met181Thr | |
| ENST00000637013.1:c.*997T>C | ENSP00000490596.1:n.*997T>C | |
| ENST00000637014.1:n.498T>C | ||
| ENST00000637095.1:c.*409T>C | ENSP00000490415.1:n.*409T>C | |
| ENST00000637244.1:c.*1147T>C | ENSP00000490188.1:n.*1147T>C | |
| ENST00000637343.1:n.2066T>C | ||
| ENST00000637429.1:c.*841T>C | ENSP00000490522.1:n.*841T>C | |
| ENST00000637484.1:c.*591T>C | ENSP00000490837.1:n.*591T>C | |
| ENST00000637528.1:c.566T>C | ENSP00000490801.1:p.Met189Thr | |
| ENST00000637609.1:n.3350T>C | ||
| ENST00000637636.1:c.623T>C | ENSP00000490112.1:p.Met208Thr | |
| ENST00000637718.1:c.434T>C | ENSP00000490133.1:p.Met145Thr | |
| ENST00000637790.2:c.629T>C MANE Select | ENSP00000490272.1:p.Met210Thr | |
| ENST00000637857.1:n.230T>C | ||
| ENST00000637922.1:c.434T>C | ENSP00000490071.1:p.Met145Thr | |
| ENST00000637991.1:c.602T>C | ENSP00000489901.1:p.Met201Thr | |
| ENST00000638028.1:n.846T>C | ||
| ENST00000638069.1:n.685T>C | ||
| ENST00000262097.10:c.629T>C | ENSP00000262097.6:p.Met210Thr | |
| ENST00000314146.10:c.611T>C | ENSP00000326970.10:p.Met204Thr | |
| ENST00000381733.8:c.677T>C | ENSP00000371152.4:p.Met226Thr | |
| ENST00000517409.1:n.566T>C | ||
| ENST00000519468.5:n.458T>C | ||
| ENST00000519545.5:n.643T>C | ||
| ENST00000520781.5:c.554T>C | ENSP00000427751.1:p.Met185Thr | |
| ENST00000523593.5:n.482T>C | ||
| NM_001127505.1:c.611T>C | NP_001120977.1:p.Met204Thr | |
| NM_001127505.2:c.611T>C | NP_001120977.1:p.Met204Thr | |
| NM_004315.4:c.677T>C | NP_004306.3:p.Met226Thr | |
| NM_004315.5:c.677T>C | NP_004306.3:p.Met226Thr | |
| NM_177924.3:c.629T>C | NP_808592.2:p.Met210Thr | |
| NM_177924.4:c.629T>C | NP_808592.2:p.Met210Thr | |
| XM_005273504.2:c.563T>C | XP_005273561.1:p.Met188Thr | |
| NM_001363743.1:c.434T>C | NP_001350672.1:p.Met145Thr | |
| XM_005273504.3:c.563T>C | XP_005273561.1:p.Met188Thr | |
| NM_177924.5:c.629T>C MANE Select | NP_808592.2:p.Met210Thr | |
| NM_001127505.3:c.611T>C | NP_001120977.1:p.Met204Thr | |
| NM_001363743.2:c.434T>C | NP_001350672.1:p.Met145Thr | |
| NM_004315.6:c.677T>C | NP_004306.3:p.Met226Thr |