Revel Score:
ENST00000294309 (MANE Select)
0.436
ENST00000535009
0.436
ENST00000542467
0.436
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078931A>G , CM000673.2:g.69078931A>G | GRCh38 |
| NC_000011.9:g.68846399A>G , CM000673.1:g.68846399A>G | GRCh37 |
| NC_000011.8:g.68602975A>G | NCBI36 |
| NG_016153.1:g.35050A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.307A>G | ENSP00000509200.1:p.Met103Val | |
| ENST00000294309.8:c.1450A>G MANE Select | ENSP00000294309.3:p.Met484Val | |
| ENST00000635811.1:c.1450A>G | ENSP00000490341.1:p.Met484Val | |
| ENST00000637084.1:c.307A>G | ENSP00000490615.1:p.Met103Val | |
| ENST00000637342.1:c.1450A>G | ENSP00000490171.1:p.Met484Val | |
| ENST00000637504.1:c.1450A>G | ENSP00000489759.1:p.Met484Val | |
| ENST00000294309.7:c.1450A>G | ENSP00000294309.3:p.Met484Val | |
| ENST00000442692.2:n.1043A>G | ||
| ENST00000535009.5:n.1259A>G | ||
| ENST00000542467.1:c.1450A>G | ENSP00000445551.1:p.Met484Val | |
| NM_139075.3:c.1450A>G | NP_620714.2:p.Met484Val | |
| XM_005273824.2:c.1447A>G | XP_005273881.1:p.Met483Val | |
| XM_005273826.2:c.1195A>G | XP_005273883.1:p.Met399Val | |
| XM_005273827.2:c.1450A>G | XP_005273884.1:p.Met484Val | |
| XM_005273828.2:c.1450A>G | XP_005273885.1:p.Met484Val | |
| XM_005273830.2:c.757A>G | XP_005273887.1:p.Met253Val | |
| XM_005273831.2:c.757A>G | XP_005273888.1:p.Met253Val | |
| XM_005273832.2:c.727A>G | XP_005273889.1:p.Met243Val | |
| XM_006718453.2:c.1450A>G | XP_006718516.1:p.Met484Val | |
| XM_006718454.2:c.1450A>G | XP_006718517.1:p.Met484Val | |
| XM_006718456.2:c.1450A>G | XP_006718519.1:p.Met484Val | |
| XM_011544802.1:c.1210A>G | XP_011543104.1:p.Met404Val | |
| XM_011544803.1:c.1450A>G | XP_011543105.1:p.Met484Val | |
| XM_011544804.1:c.1450A>G | XP_011543106.1:p.Met484Val | |
| XM_011544805.1:c.1450A>G | XP_011543107.1:p.Met484Val | |
| XM_011544806.1:c.1450A>G | XP_011543108.1:p.Met484Val | |
| XM_011544807.1:c.754A>G | XP_011543109.1:p.Met252Val | |
| XM_011544808.1:c.619A>G | XP_011543110.1:p.Met207Val | |
| XR_247191.1:n.1551A>G | ||
| XM_005273824.4:c.1447A>G | XP_005273881.1:p.Met483Val | |
| XM_005273826.4:c.1195A>G | XP_005273883.1:p.Met399Val | |
| XM_005273830.4:c.757A>G | XP_005273887.1:p.Met253Val | |
| XM_005273831.4:c.757A>G | XP_005273888.1:p.Met253Val | |
| XM_005273832.4:c.727A>G | XP_005273889.1:p.Met243Val | |
| XM_011544802.3:c.1210A>G | XP_011543104.1:p.Met404Val | |
| XM_011544807.3:c.754A>G | XP_011543109.1:p.Met252Val | |
| XM_011544808.3:c.619A>G | XP_011543110.1:p.Met207Val | |
| XM_017017328.2:c.1281A>G | XP_016872817.1:p.Arg427= | |
| XM_017017329.2:c.1278A>G | XP_016872818.1:p.Arg426= | |
| XM_017017330.2:c.727A>G | XP_016872819.1:p.Met243Val | |
| XM_017017331.2:c.727A>G | XP_016872820.1:p.Met243Val | |
| XM_017017332.2:c.541A>G | XP_016872821.1:p.Met181Val | |
| XM_017017333.2:c.558A>G | XP_016872822.1:p.Arg186= | |
| XM_017017334.2:c.558A>G | XP_016872823.1:p.Arg186= | |
| XM_017017335.2:c.558A>G | XP_016872824.1:p.Arg186= | |
| XM_017017336.2:c.450A>G | XP_016872825.1:p.Arg150= | |
| XM_024448392.1:c.1240A>G | XP_024304160.1:p.Met414Val | |
| XM_024448393.1:c.727A>G | XP_024304161.1:p.Met243Val | |
| XR_001747789.2:n.1382A>G | ||
| XR_001747790.2:n.1382A>G | ||
| XR_247191.3:n.1554A>G | ||
| NM_139075.4:c.1450A>G MANE Select | NP_620714.2:p.Met484Val |