Linked Data
dbSNP Id:
rs865884158
gnomAD v2:
2-48915882-G-T
gnomAD v3:
2-48688743-G-T
gnomAD v4:
2-48688743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688743G>T , CM000664.2:g.48688743G>T | GRCh38 |
| NC_000002.11:g.48915882G>T , CM000664.1:g.48915882G>T | GRCh37 |
| NC_000002.10:g.48769386G>T | NCBI36 |
| NG_008193.1:g.71999C>A | |
| NG_033050.1:g.163819G>T | |
| NG_008193.2:g.71999C>A | |
| NG_033050.2:g.163819G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1054C>A (LHCGR) MANE Select | ENSP00000294954.6:p.Pro352Thr | |
| ENST00000294954.11:c.1054C>A (LHCGR) | ENSP00000294954.6:p.Pro352Thr | |
| ENST00000401907.5:c.948-604C>A (LHCGR) | ENSP00000385406.1:n.948-604C>A | |
| ENST00000402114.6:c.3441+17063G>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+17063G>T | |
| ENST00000403273.5:c.948-160C>A (LHCGR) | ENSP00000385847.1:n.948-160C>A | |
| ENST00000405626.5:c.973C>A (LHCGR) | ENSP00000386033.1:p.Pro325Thr | |
| ENST00000508440.1:c.276+17063G>T (GTF2A1L) | ENSP00000421474.1:n.276+17063G>T | |
| ENST00000602369.3:c.*220+5481C>A | ENSP00000473498.1:n.*220+5481C>A | |
| NM_000233.3:c.1054C>A (LHCGR) | NP_000224.2:p.Pro352Thr | |
| NM_001198593.1:c.3441+17063G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+17063G>T | |
| XM_005264309.2:c.97C>A (LHCGR) | XP_005264366.1:p.Pro33Thr | |
| XM_006712015.2:c.124C>A (LHCGR) | XP_006712078.1:p.Pro42Thr | |
| XM_011532828.1:c.979C>A (LHCGR) | XP_011531130.1:p.Pro327Thr | |
| XM_011532829.1:c.793C>A (LHCGR) | XP_011531131.1:p.Pro265Thr | |
| XM_011532830.1:c.712C>A (LHCGR) | XP_011531132.1:p.Pro238Thr | |
| XM_011532831.1:c.418C>A (LHCGR) | XP_011531133.1:p.Pro140Thr | |
| XM_011532832.1:c.124C>A (LHCGR) | XP_011531134.1:p.Pro42Thr | |
| XM_011532833.1:c.124C>A (LHCGR) | XP_011531135.1:p.Pro42Thr | |
| XM_011532834.1:c.97C>A (LHCGR) | XP_011531136.1:p.Pro33Thr | |
| XM_005264309.3:c.97C>A (LHCGR) | XP_005264366.1:p.Pro33Thr | |
| XM_006712015.3:c.124C>A (LHCGR) | XP_006712078.1:p.Pro42Thr | |
| XM_011532834.2:c.97C>A (LHCGR) | XP_011531136.1:p.Pro33Thr | |
| XM_017004089.1:c.799C>A (LHCGR) | XP_016859578.1:p.Pro267Thr | |
| XM_017004090.1:c.418C>A (LHCGR) | XP_016859579.1:p.Pro140Thr | |
| NM_000233.4:c.1054C>A (LHCGR) MANE Select | NP_000224.2:p.Pro352Thr | |
| NM_001198593.2:c.3441+17063G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+17063G>T |