Linked Data
dbSNP Id:
rs779815833
ExAC:
2:48915258 C / G
gnomAD v2:
2-48915258-C-G
gnomAD v3:
2-48688119-C-G
gnomAD v4:
2-48688119-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688119C>G , CM000664.2:g.48688119C>G | GRCh38 |
| NC_000002.11:g.48915258C>G , CM000664.1:g.48915258C>G | GRCh37 |
| NC_000002.10:g.48768762C>G | NCBI36 |
| NG_008193.1:g.72623G>C | |
| NG_033050.1:g.163195C>G | |
| NG_008193.2:g.72623G>C | |
| NG_033050.2:g.163195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1678G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Ala560Pro | |
| ENST00000294954.11:c.1678G>C (LHCGR) | ENSP00000294954.6:p.Ala560Pro | |
| ENST00000401907.5:c.968G>C (LHCGR) | ENSP00000385406.1:p.Gly323Ala | |
| ENST00000402114.6:c.3441+16439C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16439C>G | |
| ENST00000403273.5:c.*422G>C (LHCGR) | ENSP00000385847.1:n.*422G>C | |
| ENST00000405626.5:c.1597G>C (LHCGR) | ENSP00000386033.1:p.Ala533Pro | |
| ENST00000508440.1:c.276+16439C>G (GTF2A1L) | ENSP00000421474.1:n.276+16439C>G | |
| ENST00000602369.3:c.*220+6105G>C | ENSP00000473498.1:n.*220+6105G>C | |
| NM_000233.3:c.1678G>C (LHCGR) | NP_000224.2:p.Ala560Pro | |
| NM_001198593.1:c.3441+16439C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16439C>G | |
| XM_005264309.2:c.721G>C (LHCGR) | XP_005264366.1:p.Ala241Pro | |
| XM_006712015.2:c.748G>C (LHCGR) | XP_006712078.1:p.Ala250Pro | |
| XM_011532828.1:c.1603G>C (LHCGR) | XP_011531130.1:p.Ala535Pro | |
| XM_011532829.1:c.1417G>C (LHCGR) | XP_011531131.1:p.Ala473Pro | |
| XM_011532830.1:c.1336G>C (LHCGR) | XP_011531132.1:p.Ala446Pro | |
| XM_011532831.1:c.1042G>C (LHCGR) | XP_011531133.1:p.Ala348Pro | |
| XM_011532832.1:c.748G>C (LHCGR) | XP_011531134.1:p.Ala250Pro | |
| XM_011532833.1:c.748G>C (LHCGR) | XP_011531135.1:p.Ala250Pro | |
| XM_011532834.1:c.721G>C (LHCGR) | XP_011531136.1:p.Ala241Pro | |
| XM_005264309.3:c.721G>C (LHCGR) | XP_005264366.1:p.Ala241Pro | |
| XM_006712015.3:c.748G>C (LHCGR) | XP_006712078.1:p.Ala250Pro | |
| XM_011532834.2:c.721G>C (LHCGR) | XP_011531136.1:p.Ala241Pro | |
| XM_017004089.1:c.1423G>C (LHCGR) | XP_016859578.1:p.Ala475Pro | |
| XM_017004090.1:c.1042G>C (LHCGR) | XP_016859579.1:p.Ala348Pro | |
| NM_000233.4:c.1678G>C (LHCGR) MANE Select | NP_000224.2:p.Ala560Pro | |
| NM_001198593.2:c.3441+16439C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16439C>G |