Linked Data
dbSNP Id:
rs752463921
gnomAD v2:
2-48915486-T-A
gnomAD v3:
2-48688347-T-A
gnomAD v4:
2-48688347-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688347T>A , CM000664.2:g.48688347T>A | GRCh38 |
| NC_000002.11:g.48915486T>A , CM000664.1:g.48915486T>A | GRCh37 |
| NC_000002.10:g.48768990T>A | NCBI36 |
| NG_008193.1:g.72395A>T | |
| NG_033050.1:g.163423T>A | |
| NG_008193.2:g.72395A>T | |
| NG_033050.2:g.163423T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1450A>T (LHCGR) MANE Select | ENSP00000294954.6:p.Ile484Phe | |
| ENST00000294954.11:c.1450A>T (LHCGR) | ENSP00000294954.6:p.Ile484Phe | |
| ENST00000401907.5:c.948-208A>T (LHCGR) | ENSP00000385406.1:n.948-208A>T | |
| ENST00000402114.6:c.3441+16667T>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16667T>A | |
| ENST00000403273.5:c.*194A>T (LHCGR) | ENSP00000385847.1:n.*194A>T | |
| ENST00000405626.5:c.1369A>T (LHCGR) | ENSP00000386033.1:p.Ile457Phe | |
| ENST00000508440.1:c.276+16667T>A (GTF2A1L) | ENSP00000421474.1:n.276+16667T>A | |
| ENST00000602369.3:c.*220+5877A>T | ENSP00000473498.1:n.*220+5877A>T | |
| NM_000233.3:c.1450A>T (LHCGR) | NP_000224.2:p.Ile484Phe | |
| NM_001198593.1:c.3441+16667T>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16667T>A | |
| XM_005264309.2:c.493A>T (LHCGR) | XP_005264366.1:p.Ile165Phe | |
| XM_006712015.2:c.520A>T (LHCGR) | XP_006712078.1:p.Ile174Phe | |
| XM_011532828.1:c.1375A>T (LHCGR) | XP_011531130.1:p.Ile459Phe | |
| XM_011532829.1:c.1189A>T (LHCGR) | XP_011531131.1:p.Ile397Phe | |
| XM_011532830.1:c.1108A>T (LHCGR) | XP_011531132.1:p.Ile370Phe | |
| XM_011532831.1:c.814A>T (LHCGR) | XP_011531133.1:p.Ile272Phe | |
| XM_011532832.1:c.520A>T (LHCGR) | XP_011531134.1:p.Ile174Phe | |
| XM_011532833.1:c.520A>T (LHCGR) | XP_011531135.1:p.Ile174Phe | |
| XM_011532834.1:c.493A>T (LHCGR) | XP_011531136.1:p.Ile165Phe | |
| XM_005264309.3:c.493A>T (LHCGR) | XP_005264366.1:p.Ile165Phe | |
| XM_006712015.3:c.520A>T (LHCGR) | XP_006712078.1:p.Ile174Phe | |
| XM_011532834.2:c.493A>T (LHCGR) | XP_011531136.1:p.Ile165Phe | |
| XM_017004089.1:c.1195A>T (LHCGR) | XP_016859578.1:p.Ile399Phe | |
| XM_017004090.1:c.814A>T (LHCGR) | XP_016859579.1:p.Ile272Phe | |
| NM_000233.4:c.1450A>T (LHCGR) MANE Select | NP_000224.2:p.Ile484Phe | |
| NM_001198593.2:c.3441+16667T>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16667T>A |