Linked Data
ClinVar Variation Id:
14392
dbSNP Id:
rs121912524
gnomAD v2:
2-48915276-G-A
gnomAD v3:
2-48688137-G-A
gnomAD v4:
2-48688137-G-A
COSMIC:
COSM95625
PubMed:
PMID:8559204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688137G>A , CM000664.2:g.48688137G>A | GRCh38 |
| NC_000002.11:g.48915276G>A , CM000664.1:g.48915276G>A | GRCh37 |
| NC_000002.10:g.48768780G>A | NCBI36 |
| NG_008193.1:g.72605C>T | |
| NG_033050.1:g.163213G>A | |
| NG_008193.2:g.72605C>T | |
| NG_033050.2:g.163213G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1660C>T (LHCGR) MANE Select | ENSP00000294954.6:p.Arg554Ter | |
| ENST00000294954.11:c.1660C>T (LHCGR) | ENSP00000294954.6:p.Arg554Ter | |
| ENST00000401907.5:c.950C>T (LHCGR) | ENSP00000385406.1:p.Ser317Leu | |
| ENST00000402114.6:c.3441+16457G>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16457G>A | |
| ENST00000403273.5:c.*404C>T (LHCGR) | ENSP00000385847.1:n.*404C>T | |
| ENST00000405626.5:c.1579C>T (LHCGR) | ENSP00000386033.1:p.Arg527Ter | |
| ENST00000508440.1:c.276+16457G>A (GTF2A1L) | ENSP00000421474.1:n.276+16457G>A | |
| ENST00000602369.3:c.*220+6087C>T | ENSP00000473498.1:n.*220+6087C>T | |
| NM_000233.3:c.1660C>T (LHCGR) | NP_000224.2:p.Arg554Ter | |
| NM_001198593.1:c.3441+16457G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16457G>A | |
| XM_005264309.2:c.703C>T (LHCGR) | XP_005264366.1:p.Arg235Ter | |
| XM_006712015.2:c.730C>T (LHCGR) | XP_006712078.1:p.Arg244Ter | |
| XM_011532828.1:c.1585C>T (LHCGR) | XP_011531130.1:p.Arg529Ter | |
| XM_011532829.1:c.1399C>T (LHCGR) | XP_011531131.1:p.Arg467Ter | |
| XM_011532830.1:c.1318C>T (LHCGR) | XP_011531132.1:p.Arg440Ter | |
| XM_011532831.1:c.1024C>T (LHCGR) | XP_011531133.1:p.Arg342Ter | |
| XM_011532832.1:c.730C>T (LHCGR) | XP_011531134.1:p.Arg244Ter | |
| XM_011532833.1:c.730C>T (LHCGR) | XP_011531135.1:p.Arg244Ter | |
| XM_011532834.1:c.703C>T (LHCGR) | XP_011531136.1:p.Arg235Ter | |
| XM_005264309.3:c.703C>T (LHCGR) | XP_005264366.1:p.Arg235Ter | |
| XM_006712015.3:c.730C>T (LHCGR) | XP_006712078.1:p.Arg244Ter | |
| XM_011532834.2:c.703C>T (LHCGR) | XP_011531136.1:p.Arg235Ter | |
| XM_017004089.1:c.1405C>T (LHCGR) | XP_016859578.1:p.Arg469Ter | |
| XM_017004090.1:c.1024C>T (LHCGR) | XP_016859579.1:p.Arg342Ter | |
| NM_000233.4:c.1660C>T (LHCGR) MANE Select | NP_000224.2:p.Arg554Ter | |
| NM_001198593.2:c.3441+16457G>A (STON1-GTF2A1L) | NP_001185522.1:n.3441+16457G>A |