Revel Score:
ENST00000344775
0.500
ENST00000294954 (MANE Select)
0.500
ENST00000405626
0.500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688065C>G , CM000664.2:g.48688065C>G | GRCh38 |
| NC_000002.11:g.48915204C>G , CM000664.1:g.48915204C>G | GRCh37 |
| NC_000002.10:g.48768708C>G | NCBI36 |
| NG_008193.1:g.72677G>C | |
| NG_033050.1:g.163141C>G | |
| NG_008193.2:g.72677G>C | |
| NG_033050.2:g.163141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1732G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Asp578His | |
| ENST00000294954.11:c.1732G>C (LHCGR) | ENSP00000294954.6:p.Asp578His | |
| ENST00000401907.5:c.*44G>C (LHCGR) | ENSP00000385406.1:n.*44G>C | |
| ENST00000402114.6:c.3441+16385C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16385C>G | |
| ENST00000403273.5:c.*476G>C (LHCGR) | ENSP00000385847.1:n.*476G>C | |
| ENST00000405626.5:c.1651G>C (LHCGR) | ENSP00000386033.1:p.Asp551His | |
| ENST00000508440.1:c.276+16385C>G (GTF2A1L) | ENSP00000421474.1:n.276+16385C>G | |
| ENST00000602369.3:c.*220+6159G>C | ENSP00000473498.1:n.*220+6159G>C | |
| NM_000233.3:c.1732G>C (LHCGR) | NP_000224.2:p.Asp578His | |
| NM_001198593.1:c.3441+16385C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16385C>G | |
| XM_005264309.2:c.775G>C (LHCGR) | XP_005264366.1:p.Asp259His | |
| XM_006712015.2:c.802G>C (LHCGR) | XP_006712078.1:p.Asp268His | |
| XM_011532828.1:c.1657G>C (LHCGR) | XP_011531130.1:p.Asp553His | |
| XM_011532829.1:c.1471G>C (LHCGR) | XP_011531131.1:p.Asp491His | |
| XM_011532830.1:c.1390G>C (LHCGR) | XP_011531132.1:p.Asp464His | |
| XM_011532831.1:c.1096G>C (LHCGR) | XP_011531133.1:p.Asp366His | |
| XM_011532832.1:c.802G>C (LHCGR) | XP_011531134.1:p.Asp268His | |
| XM_011532833.1:c.802G>C (LHCGR) | XP_011531135.1:p.Asp268His | |
| XM_011532834.1:c.775G>C (LHCGR) | XP_011531136.1:p.Asp259His | |
| XM_005264309.3:c.775G>C (LHCGR) | XP_005264366.1:p.Asp259His | |
| XM_006712015.3:c.802G>C (LHCGR) | XP_006712078.1:p.Asp268His | |
| XM_011532834.2:c.775G>C (LHCGR) | XP_011531136.1:p.Asp259His | |
| XM_017004089.1:c.1477G>C (LHCGR) | XP_016859578.1:p.Asp493His | |
| XM_017004090.1:c.1096G>C (LHCGR) | XP_016859579.1:p.Asp366His | |
| NM_000233.4:c.1732G>C (LHCGR) MANE Select | NP_000224.2:p.Asp578His | |
| NM_001198593.2:c.3441+16385C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16385C>G |