Linked Data
dbSNP Id:
rs752989860
ExAC:
2:48914870 G / C
gnomAD v2:
2-48914870-G-C
gnomAD v3:
2-48687731-G-C
gnomAD v4:
2-48687731-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687731G>C , CM000664.2:g.48687731G>C | GRCh38 |
| NC_000002.11:g.48914870G>C , CM000664.1:g.48914870G>C | GRCh37 |
| NC_000002.10:g.48768374G>C | NCBI36 |
| NG_008193.1:g.73011C>G | |
| NG_033050.1:g.162807G>C | |
| NG_008193.2:g.73011C>G | |
| NG_033050.2:g.162807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.2066C>G (LHCGR) MANE Select | ENSP00000294954.6:p.Ala689Gly | |
| ENST00000294954.11:c.2066C>G (LHCGR) | ENSP00000294954.6:p.Ala689Gly | |
| ENST00000401907.5:c.*378C>G (LHCGR) | ENSP00000385406.1:n.*378C>G | |
| ENST00000402114.6:c.3441+16051G>C (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16051G>C | |
| ENST00000403273.5:c.*810C>G (LHCGR) | ENSP00000385847.1:n.*810C>G | |
| ENST00000405626.5:c.1985C>G (LHCGR) | ENSP00000386033.1:p.Ala662Gly | |
| ENST00000508440.1:c.276+16051G>C (GTF2A1L) | ENSP00000421474.1:n.276+16051G>C | |
| ENST00000602369.3:c.*220+6493C>G | ENSP00000473498.1:n.*220+6493C>G | |
| NM_000233.3:c.2066C>G (LHCGR) | NP_000224.2:p.Ala689Gly | |
| NM_001198593.1:c.3441+16051G>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16051G>C | |
| XM_005264309.2:c.1109C>G (LHCGR) | XP_005264366.1:p.Ala370Gly | |
| XM_006712015.2:c.1136C>G (LHCGR) | XP_006712078.1:p.Ala379Gly | |
| XM_011532828.1:c.1991C>G (LHCGR) | XP_011531130.1:p.Ala664Gly | |
| XM_011532829.1:c.1805C>G (LHCGR) | XP_011531131.1:p.Ala602Gly | |
| XM_011532830.1:c.1724C>G (LHCGR) | XP_011531132.1:p.Ala575Gly | |
| XM_011532831.1:c.1430C>G (LHCGR) | XP_011531133.1:p.Ala477Gly | |
| XM_011532832.1:c.1136C>G (LHCGR) | XP_011531134.1:p.Ala379Gly | |
| XM_011532833.1:c.1136C>G (LHCGR) | XP_011531135.1:p.Ala379Gly | |
| XM_011532834.1:c.1109C>G (LHCGR) | XP_011531136.1:p.Ala370Gly | |
| XM_005264309.3:c.1109C>G (LHCGR) | XP_005264366.1:p.Ala370Gly | |
| XM_006712015.3:c.1136C>G (LHCGR) | XP_006712078.1:p.Ala379Gly | |
| XM_011532834.2:c.1109C>G (LHCGR) | XP_011531136.1:p.Ala370Gly | |
| XM_017004089.1:c.1811C>G (LHCGR) | XP_016859578.1:p.Ala604Gly | |
| XM_017004090.1:c.1430C>G (LHCGR) | XP_016859579.1:p.Ala477Gly | |
| NM_000233.4:c.2066C>G (LHCGR) MANE Select | NP_000224.2:p.Ala689Gly | |
| NM_001198593.2:c.3441+16051G>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16051G>C |