Linked Data
dbSNP Id:
rs766664088
ExAC:
2:48915954 C / G
gnomAD v2:
2-48915954-C-G
gnomAD v4:
2-48688815-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688815C>G , CM000664.2:g.48688815C>G | GRCh38 |
| NC_000002.11:g.48915954C>G , CM000664.1:g.48915954C>G | GRCh37 |
| NC_000002.10:g.48769458C>G | NCBI36 |
| NG_008193.1:g.71927G>C | |
| NG_033050.1:g.163891C>G | |
| NG_008193.2:g.71927G>C | |
| NG_033050.2:g.163891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.982G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Gly328Arg | |
| ENST00000294954.11:c.982G>C (LHCGR) | ENSP00000294954.6:p.Gly328Arg | |
| ENST00000401907.5:c.948-676G>C (LHCGR) | ENSP00000385406.1:n.948-676G>C | |
| ENST00000402114.6:c.3441+17135C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+17135C>G | |
| ENST00000403273.5:c.948-232G>C (LHCGR) | ENSP00000385847.1:n.948-232G>C | |
| ENST00000405626.5:c.901G>C (LHCGR) | ENSP00000386033.1:p.Gly301Arg | |
| ENST00000508440.1:c.276+17135C>G (GTF2A1L) | ENSP00000421474.1:n.276+17135C>G | |
| ENST00000602369.3:c.*220+5409G>C | ENSP00000473498.1:n.*220+5409G>C | |
| NM_000233.3:c.982G>C (LHCGR) | NP_000224.2:p.Gly328Arg | |
| NM_001198593.1:c.3441+17135C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17135C>G | |
| XM_005264309.2:c.25G>C (LHCGR) | XP_005264366.1:p.Gly9Arg | |
| XM_006712015.2:c.52G>C (LHCGR) | XP_006712078.1:p.Gly18Arg | |
| XM_011532828.1:c.907G>C (LHCGR) | XP_011531130.1:p.Gly303Arg | |
| XM_011532829.1:c.721G>C (LHCGR) | XP_011531131.1:p.Gly241Arg | |
| XM_011532830.1:c.640G>C (LHCGR) | XP_011531132.1:p.Gly214Arg | |
| XM_011532831.1:c.346G>C (LHCGR) | XP_011531133.1:p.Gly116Arg | |
| XM_011532832.1:c.52G>C (LHCGR) | XP_011531134.1:p.Gly18Arg | |
| XM_011532833.1:c.52G>C (LHCGR) | XP_011531135.1:p.Gly18Arg | |
| XM_011532834.1:c.25G>C (LHCGR) | XP_011531136.1:p.Gly9Arg | |
| XM_005264309.3:c.25G>C (LHCGR) | XP_005264366.1:p.Gly9Arg | |
| XM_006712015.3:c.52G>C (LHCGR) | XP_006712078.1:p.Gly18Arg | |
| XM_011532834.2:c.25G>C (LHCGR) | XP_011531136.1:p.Gly9Arg | |
| XM_017004089.1:c.727G>C (LHCGR) | XP_016859578.1:p.Gly243Arg | |
| XM_017004090.1:c.346G>C (LHCGR) | XP_016859579.1:p.Gly116Arg | |
| NM_000233.4:c.982G>C (LHCGR) MANE Select | NP_000224.2:p.Gly328Arg | |
| NM_001198593.2:c.3441+17135C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17135C>G |