Linked Data
dbSNP Id:
rs745609224
ExAC:
2:48914939 C / G
gnomAD v2:
2-48914939-C-G
gnomAD v3:
2-48687800-C-G
gnomAD v4:
2-48687800-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687800C>G , CM000664.2:g.48687800C>G | GRCh38 |
| NC_000002.11:g.48914939C>G , CM000664.1:g.48914939C>G | GRCh37 |
| NC_000002.10:g.48768443C>G | NCBI36 |
| NG_008193.1:g.72942G>C | |
| NG_033050.1:g.162876C>G | |
| NG_008193.2:g.72942G>C | |
| NG_033050.2:g.162876C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1997G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Gly666Ala | |
| ENST00000294954.11:c.1997G>C (LHCGR) | ENSP00000294954.6:p.Gly666Ala | |
| ENST00000401907.5:c.*309G>C (LHCGR) | ENSP00000385406.1:n.*309G>C | |
| ENST00000402114.6:c.3441+16120C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16120C>G | |
| ENST00000403273.5:c.*741G>C (LHCGR) | ENSP00000385847.1:n.*741G>C | |
| ENST00000405626.5:c.1916G>C (LHCGR) | ENSP00000386033.1:p.Gly639Ala | |
| ENST00000508440.1:c.276+16120C>G (GTF2A1L) | ENSP00000421474.1:n.276+16120C>G | |
| ENST00000602369.3:c.*220+6424G>C | ENSP00000473498.1:n.*220+6424G>C | |
| NM_000233.3:c.1997G>C (LHCGR) | NP_000224.2:p.Gly666Ala | |
| NM_001198593.1:c.3441+16120C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16120C>G | |
| XM_005264309.2:c.1040G>C (LHCGR) | XP_005264366.1:p.Gly347Ala | |
| XM_006712015.2:c.1067G>C (LHCGR) | XP_006712078.1:p.Gly356Ala | |
| XM_011532828.1:c.1922G>C (LHCGR) | XP_011531130.1:p.Gly641Ala | |
| XM_011532829.1:c.1736G>C (LHCGR) | XP_011531131.1:p.Gly579Ala | |
| XM_011532830.1:c.1655G>C (LHCGR) | XP_011531132.1:p.Gly552Ala | |
| XM_011532831.1:c.1361G>C (LHCGR) | XP_011531133.1:p.Gly454Ala | |
| XM_011532832.1:c.1067G>C (LHCGR) | XP_011531134.1:p.Gly356Ala | |
| XM_011532833.1:c.1067G>C (LHCGR) | XP_011531135.1:p.Gly356Ala | |
| XM_011532834.1:c.1040G>C (LHCGR) | XP_011531136.1:p.Gly347Ala | |
| XM_005264309.3:c.1040G>C (LHCGR) | XP_005264366.1:p.Gly347Ala | |
| XM_006712015.3:c.1067G>C (LHCGR) | XP_006712078.1:p.Gly356Ala | |
| XM_011532834.2:c.1040G>C (LHCGR) | XP_011531136.1:p.Gly347Ala | |
| XM_017004089.1:c.1742G>C (LHCGR) | XP_016859578.1:p.Gly581Ala | |
| XM_017004090.1:c.1361G>C (LHCGR) | XP_016859579.1:p.Gly454Ala | |
| NM_000233.4:c.1997G>C (LHCGR) MANE Select | NP_000224.2:p.Gly666Ala | |
| NM_001198593.2:c.3441+16120C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16120C>G |