Linked Data
ClinVar Variation Id:
423531
ClinVar RCV Id:
RCV000484363
dbSNP Id:
rs1064796476
gnomAD v4:
2-48688326-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688326A>G , CM000664.2:g.48688326A>G | GRCh38 |
| NC_000002.11:g.48915465A>G , CM000664.1:g.48915465A>G | GRCh37 |
| NC_000002.10:g.48768969A>G | NCBI36 |
| NG_008193.1:g.72416T>C | |
| NG_033050.1:g.163402A>G | |
| NG_008193.2:g.72416T>C | |
| NG_033050.2:g.163402A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1471T>C (LHCGR) MANE Select | ENSP00000294954.6:p.Trp491Arg | |
| ENST00000294954.11:c.1471T>C (LHCGR) | ENSP00000294954.6:p.Trp491Arg | |
| ENST00000401907.5:c.948-187T>C (LHCGR) | ENSP00000385406.1:n.948-187T>C | |
| ENST00000402114.6:c.3441+16646A>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16646A>G | |
| ENST00000403273.5:c.*215T>C (LHCGR) | ENSP00000385847.1:n.*215T>C | |
| ENST00000405626.5:c.1390T>C (LHCGR) | ENSP00000386033.1:p.Trp464Arg | |
| ENST00000508440.1:c.276+16646A>G (GTF2A1L) | ENSP00000421474.1:n.276+16646A>G | |
| ENST00000602369.3:c.*220+5898T>C | ENSP00000473498.1:n.*220+5898T>C | |
| NM_000233.3:c.1471T>C (LHCGR) | NP_000224.2:p.Trp491Arg | |
| NM_001198593.1:c.3441+16646A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16646A>G | |
| XM_005264309.2:c.514T>C (LHCGR) | XP_005264366.1:p.Trp172Arg | |
| XM_006712015.2:c.541T>C (LHCGR) | XP_006712078.1:p.Trp181Arg | |
| XM_011532828.1:c.1396T>C (LHCGR) | XP_011531130.1:p.Trp466Arg | |
| XM_011532829.1:c.1210T>C (LHCGR) | XP_011531131.1:p.Trp404Arg | |
| XM_011532830.1:c.1129T>C (LHCGR) | XP_011531132.1:p.Trp377Arg | |
| XM_011532831.1:c.835T>C (LHCGR) | XP_011531133.1:p.Trp279Arg | |
| XM_011532832.1:c.541T>C (LHCGR) | XP_011531134.1:p.Trp181Arg | |
| XM_011532833.1:c.541T>C (LHCGR) | XP_011531135.1:p.Trp181Arg | |
| XM_011532834.1:c.514T>C (LHCGR) | XP_011531136.1:p.Trp172Arg | |
| XM_005264309.3:c.514T>C (LHCGR) | XP_005264366.1:p.Trp172Arg | |
| XM_006712015.3:c.541T>C (LHCGR) | XP_006712078.1:p.Trp181Arg | |
| XM_011532834.2:c.514T>C (LHCGR) | XP_011531136.1:p.Trp172Arg | |
| XM_017004089.1:c.1216T>C (LHCGR) | XP_016859578.1:p.Trp406Arg | |
| XM_017004090.1:c.835T>C (LHCGR) | XP_016859579.1:p.Trp279Arg | |
| NM_000233.4:c.1471T>C (LHCGR) MANE Select | NP_000224.2:p.Trp491Arg | |
| NM_001198593.2:c.3441+16646A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16646A>G |