Revel Score:
ENST00000380746
0.786
ENST00000321117 (MANE Select)
0.786
ENST00000264709
0.786
ENST00000402667
0.786
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25244579C>A , CM000664.2:g.25244579C>A | GRCh38 |
| NC_000002.11:g.25467448C>A , CM000664.1:g.25467448C>A | GRCh37 |
| NC_000002.10:g.25320952C>A | NCBI36 |
| NG_029465.2:g.103012G>T , LRG_459:g.103012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683393.1:c.774G>T | ENSP00000508654.1:n.774G>T | |
| ENST00000683760.1:c.959G>T | ENSP00000507765.1:p.Gly320Val | |
| ENST00000321117.10:c.1628G>T MANE Select | ENSP00000324375.5:p.Gly543Val | |
| ENST00000264709.7:c.1628G>T | ENSP00000264709.3:p.Gly543Val | |
| ENST00000321117.9:c.1628G>T | ENSP00000324375.5:p.Gly543Val | |
| ENST00000380746.8:c.1061G>T | ENSP00000370122.4:p.Gly354Val | |
| ENST00000380756.7:c.1628G>T | ENSP00000370132.3:p.Gly543Val | |
| ENST00000402667.1:c.959G>T | ENSP00000384237.1:p.Gly320Val | |
| NM_022552.4:c.1628G>T , LRG_459t1:c.1628G>T | NP_072046.2:p.Gly543Val | |
| NM_153759.3:c.1061G>T , LRG_459t2:c.1061G>T | NP_715640.2:p.Gly354Val | |
| NM_175629.2:c.1628G>T , LRG_459t4:c.1628G>T | NP_783328.1:p.Gly543Val | |
| XM_005264175.3:c.1628G>T | XP_005264232.1:p.Gly543Val | |
| XM_005264177.3:c.959G>T | XP_005264234.1:p.Gly320Val | |
| XM_006711957.2:c.1628G>T | XP_006712020.1:p.Gly543Val | |
| XM_006711958.2:c.1184G>T | XP_006712021.1:p.Gly395Val | |
| XM_011532662.1:c.1481G>T | XP_011530964.1:p.Gly494Val | |
| XM_011532663.1:c.1463G>T | XP_011530965.1:p.Gly488Val | |
| XM_011532664.1:c.1628G>T | XP_011530966.1:p.Gly543Val | |
| XM_011532665.1:c.1172G>T | XP_011530967.1:p.Gly391Val | |
| XM_011532666.1:c.1100G>T | XP_011530968.1:p.Gly367Val | |
| XM_011532667.1:c.959G>T | XP_011530969.1:p.Gly320Val | |
| XM_011532668.1:c.1628G>T | XP_011530970.1:p.Gly543Val | |
| NM_001320893.1:c.1172G>T | NP_001307822.1:p.Gly391Val | |
| NR_135490.1:n.1966G>T | ||
| XM_005264175.5:c.1628G>T | XP_005264232.1:p.Gly543Val | |
| XM_005264177.4:c.959G>T | XP_005264234.1:p.Gly320Val | |
| XM_011532662.2:c.1481G>T | XP_011530964.1:p.Gly494Val | |
| XM_011532663.2:c.1463G>T | XP_011530965.1:p.Gly488Val | |
| XM_011532664.2:c.1628G>T | XP_011530966.1:p.Gly543Val | |
| XM_011532666.2:c.1100G>T | XP_011530968.1:p.Gly367Val | |
| XM_011532667.3:c.959G>T | XP_011530969.1:p.Gly320Val | |
| XM_017003526.1:c.1628G>T | XP_016859015.1:p.Gly543Val | |
| XM_017003527.1:c.959G>T | XP_016859016.1:p.Gly320Val | |
| XR_001738657.1:n.1905G>T | ||
| NM_001375819.1:c.959G>T | NP_001362748.1:p.Gly320Val | |
| NR_135490.2:n.1859G>T | ||
| NM_022552.5:c.1628G>T MANE Select | NP_072046.2:p.Gly543Val |