Linked Data
dbSNP Id:
rs148907927
ExAC:
2:48915519 G / A
gnomAD v2:
2-48915519-G-A
gnomAD v3:
2-48688380-G-A
gnomAD v4:
2-48688380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688380G>A , CM000664.2:g.48688380G>A | GRCh38 |
| NC_000002.11:g.48915519G>A , CM000664.1:g.48915519G>A | GRCh37 |
| NC_000002.10:g.48769023G>A | NCBI36 |
| NG_008193.1:g.72362C>T | |
| NG_033050.1:g.163456G>A | |
| NG_008193.2:g.72362C>T | |
| NG_033050.2:g.163456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1417C>T (LHCGR) MANE Select | ENSP00000294954.6:p.His473Tyr | |
| ENST00000294954.11:c.1417C>T (LHCGR) | ENSP00000294954.6:p.His473Tyr | |
| ENST00000401907.5:c.948-241C>T (LHCGR) | ENSP00000385406.1:n.948-241C>T | |
| ENST00000402114.6:c.3441+16700G>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16700G>A | |
| ENST00000403273.5:c.*161C>T (LHCGR) | ENSP00000385847.1:n.*161C>T | |
| ENST00000405626.5:c.1336C>T (LHCGR) | ENSP00000386033.1:p.His446Tyr | |
| ENST00000508440.1:c.276+16700G>A (GTF2A1L) | ENSP00000421474.1:n.276+16700G>A | |
| ENST00000602369.3:c.*220+5844C>T | ENSP00000473498.1:n.*220+5844C>T | |
| NM_000233.3:c.1417C>T (LHCGR) | NP_000224.2:p.His473Tyr | |
| NM_001198593.1:c.3441+16700G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16700G>A | |
| XM_005264309.2:c.460C>T (LHCGR) | XP_005264366.1:p.His154Tyr | |
| XM_006712015.2:c.487C>T (LHCGR) | XP_006712078.1:p.His163Tyr | |
| XM_011532828.1:c.1342C>T (LHCGR) | XP_011531130.1:p.His448Tyr | |
| XM_011532829.1:c.1156C>T (LHCGR) | XP_011531131.1:p.His386Tyr | |
| XM_011532830.1:c.1075C>T (LHCGR) | XP_011531132.1:p.His359Tyr | |
| XM_011532831.1:c.781C>T (LHCGR) | XP_011531133.1:p.His261Tyr | |
| XM_011532832.1:c.487C>T (LHCGR) | XP_011531134.1:p.His163Tyr | |
| XM_011532833.1:c.487C>T (LHCGR) | XP_011531135.1:p.His163Tyr | |
| XM_011532834.1:c.460C>T (LHCGR) | XP_011531136.1:p.His154Tyr | |
| XM_005264309.3:c.460C>T (LHCGR) | XP_005264366.1:p.His154Tyr | |
| XM_006712015.3:c.487C>T (LHCGR) | XP_006712078.1:p.His163Tyr | |
| XM_011532834.2:c.460C>T (LHCGR) | XP_011531136.1:p.His154Tyr | |
| XM_017004089.1:c.1162C>T (LHCGR) | XP_016859578.1:p.His388Tyr | |
| XM_017004090.1:c.781C>T (LHCGR) | XP_016859579.1:p.His261Tyr | |
| NM_000233.4:c.1417C>T (LHCGR) MANE Select | NP_000224.2:p.His473Tyr | |
| NM_001198593.2:c.3441+16700G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16700G>A |