Linked Data
dbSNP Id:
rs771069978
ExAC:
2:48915336 G / A
gnomAD v2:
2-48915336-G-A
gnomAD v3:
2-48688197-G-A
gnomAD v4:
2-48688197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688197G>A , CM000664.2:g.48688197G>A | GRCh38 |
| NC_000002.11:g.48915336G>A , CM000664.1:g.48915336G>A | GRCh37 |
| NC_000002.10:g.48768840G>A | NCBI36 |
| NG_008193.1:g.72545C>T | |
| NG_033050.1:g.163273G>A | |
| NG_008193.2:g.72545C>T | |
| NG_033050.2:g.163273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1600C>T (LHCGR) MANE Select | ENSP00000294954.6:p.Leu534Phe | |
| ENST00000294954.11:c.1600C>T (LHCGR) | ENSP00000294954.6:p.Leu534Phe | |
| ENST00000401907.5:c.948-58C>T (LHCGR) | ENSP00000385406.1:n.948-58C>T | |
| ENST00000402114.6:c.3441+16517G>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16517G>A | |
| ENST00000403273.5:c.*344C>T (LHCGR) | ENSP00000385847.1:n.*344C>T | |
| ENST00000405626.5:c.1519C>T (LHCGR) | ENSP00000386033.1:p.Leu507Phe | |
| ENST00000508440.1:c.276+16517G>A (GTF2A1L) | ENSP00000421474.1:n.276+16517G>A | |
| ENST00000602369.3:c.*220+6027C>T | ENSP00000473498.1:n.*220+6027C>T | |
| NM_000233.3:c.1600C>T (LHCGR) | NP_000224.2:p.Leu534Phe | |
| NM_001198593.1:c.3441+16517G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16517G>A | |
| XM_005264309.2:c.643C>T (LHCGR) | XP_005264366.1:p.Leu215Phe | |
| XM_006712015.2:c.670C>T (LHCGR) | XP_006712078.1:p.Leu224Phe | |
| XM_011532828.1:c.1525C>T (LHCGR) | XP_011531130.1:p.Leu509Phe | |
| XM_011532829.1:c.1339C>T (LHCGR) | XP_011531131.1:p.Leu447Phe | |
| XM_011532830.1:c.1258C>T (LHCGR) | XP_011531132.1:p.Leu420Phe | |
| XM_011532831.1:c.964C>T (LHCGR) | XP_011531133.1:p.Leu322Phe | |
| XM_011532832.1:c.670C>T (LHCGR) | XP_011531134.1:p.Leu224Phe | |
| XM_011532833.1:c.670C>T (LHCGR) | XP_011531135.1:p.Leu224Phe | |
| XM_011532834.1:c.643C>T (LHCGR) | XP_011531136.1:p.Leu215Phe | |
| XM_005264309.3:c.643C>T (LHCGR) | XP_005264366.1:p.Leu215Phe | |
| XM_006712015.3:c.670C>T (LHCGR) | XP_006712078.1:p.Leu224Phe | |
| XM_011532834.2:c.643C>T (LHCGR) | XP_011531136.1:p.Leu215Phe | |
| XM_017004089.1:c.1345C>T (LHCGR) | XP_016859578.1:p.Leu449Phe | |
| XM_017004090.1:c.964C>T (LHCGR) | XP_016859579.1:p.Leu322Phe | |
| NM_000233.4:c.1600C>T (LHCGR) MANE Select | NP_000224.2:p.Leu534Phe | |
| NM_001198593.2:c.3441+16517G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16517G>A |