Linked Data
dbSNP Id:
rs773654846
ExAC:
2:48915084 C / T
gnomAD v2:
2-48915084-C-T
gnomAD v3:
2-48687945-C-T
gnomAD v4:
2-48687945-C-T
COSMIC:
COSM5550271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687945C>T , CM000664.2:g.48687945C>T | GRCh38 |
| NC_000002.11:g.48915084C>T , CM000664.1:g.48915084C>T | GRCh37 |
| NC_000002.10:g.48768588C>T | NCBI36 |
| NG_008193.1:g.72797G>A | |
| NG_033050.1:g.163021C>T | |
| NG_008193.2:g.72797G>A | |
| NG_033050.2:g.163021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1852G>A (LHCGR) MANE Select | ENSP00000294954.6:p.Ala618Thr | |
| ENST00000294954.11:c.1852G>A (LHCGR) | ENSP00000294954.6:p.Ala618Thr | |
| ENST00000401907.5:c.*164G>A (LHCGR) | ENSP00000385406.1:n.*164G>A | |
| ENST00000402114.6:c.3441+16265C>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16265C>T | |
| ENST00000403273.5:c.*596G>A (LHCGR) | ENSP00000385847.1:n.*596G>A | |
| ENST00000405626.5:c.1771G>A (LHCGR) | ENSP00000386033.1:p.Ala591Thr | |
| ENST00000508440.1:c.276+16265C>T (GTF2A1L) | ENSP00000421474.1:n.276+16265C>T | |
| ENST00000602369.3:c.*220+6279G>A | ENSP00000473498.1:n.*220+6279G>A | |
| NM_000233.3:c.1852G>A (LHCGR) | NP_000224.2:p.Ala618Thr | |
| NM_001198593.1:c.3441+16265C>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16265C>T | |
| XM_005264309.2:c.895G>A (LHCGR) | XP_005264366.1:p.Ala299Thr | |
| XM_006712015.2:c.922G>A (LHCGR) | XP_006712078.1:p.Ala308Thr | |
| XM_011532828.1:c.1777G>A (LHCGR) | XP_011531130.1:p.Ala593Thr | |
| XM_011532829.1:c.1591G>A (LHCGR) | XP_011531131.1:p.Ala531Thr | |
| XM_011532830.1:c.1510G>A (LHCGR) | XP_011531132.1:p.Ala504Thr | |
| XM_011532831.1:c.1216G>A (LHCGR) | XP_011531133.1:p.Ala406Thr | |
| XM_011532832.1:c.922G>A (LHCGR) | XP_011531134.1:p.Ala308Thr | |
| XM_011532833.1:c.922G>A (LHCGR) | XP_011531135.1:p.Ala308Thr | |
| XM_011532834.1:c.895G>A (LHCGR) | XP_011531136.1:p.Ala299Thr | |
| XM_005264309.3:c.895G>A (LHCGR) | XP_005264366.1:p.Ala299Thr | |
| XM_006712015.3:c.922G>A (LHCGR) | XP_006712078.1:p.Ala308Thr | |
| XM_011532834.2:c.895G>A (LHCGR) | XP_011531136.1:p.Ala299Thr | |
| XM_017004089.1:c.1597G>A (LHCGR) | XP_016859578.1:p.Ala533Thr | |
| XM_017004090.1:c.1216G>A (LHCGR) | XP_016859579.1:p.Ala406Thr | |
| NM_000233.4:c.1852G>A (LHCGR) MANE Select | NP_000224.2:p.Ala618Thr | |
| NM_001198593.2:c.3441+16265C>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16265C>T |