Revel Score:
ENST00000344775
0.671
ENST00000294954 (MANE Select)
0.671
ENST00000405626
0.671
ENST00000403273
0.671
ENST00000401907
0.671
ENST00000428232
0.671
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48723650C>A , CM000664.2:g.48723650C>A | GRCh38 |
| NC_000002.11:g.48950789C>A , CM000664.1:g.48950789C>A | GRCh37 |
| NC_000002.10:g.48804293C>A | NCBI36 |
| NG_008193.1:g.37092G>T | |
| NG_033050.1:g.198726C>A | |
| NG_008193.2:g.37092G>T | |
| NG_033050.2:g.198726C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.430G>T (LHCGR) MANE Select | ENSP00000294954.6:p.Val144Phe | |
| ENST00000294954.11:c.430G>T (LHCGR) | ENSP00000294954.6:p.Val144Phe | |
| ENST00000401907.5:c.430G>T (LHCGR) | ENSP00000385406.1:p.Val144Phe | |
| ENST00000402114.6:c.3441+51970C>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+51970C>A | |
| ENST00000403273.5:c.430G>T (LHCGR) | ENSP00000385847.1:p.Val144Phe | |
| ENST00000405626.5:c.430G>T (LHCGR) | ENSP00000386033.1:p.Val144Phe | |
| ENST00000428232.2:c.328G>T (LHCGR) | ENSP00000403748.1:p.Val110Phe | |
| ENST00000508440.1:c.277-9243C>A (GTF2A1L) | ENSP00000421474.1:n.277-9243C>A | |
| ENST00000602369.3:c.355G>T | ENSP00000473498.1:p.Val119Phe | |
| NM_000233.3:c.430G>T (LHCGR) | NP_000224.2:p.Val144Phe | |
| NM_001198593.1:c.3441+51970C>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+51970C>A | |
| XM_011532828.1:c.355G>T (LHCGR) | XP_011531130.1:p.Val119Phe | |
| XM_011532829.1:c.355G>T (LHCGR) | XP_011531131.1:p.Val119Phe | |
| XM_011532830.1:c.355G>T (LHCGR) | XP_011531132.1:p.Val119Phe | |
| XM_017004089.1:c.361G>T (LHCGR) | XP_016859578.1:p.Val121Phe | |
| NM_000233.4:c.430G>T (LHCGR) MANE Select | NP_000224.2:p.Val144Phe | |
| NM_001198593.2:c.3441+51970C>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+51970C>A |