Linked Data
ClinVar Variation Id:
2621223
ClinVar RCV Id:
RCV003385097
dbSNP Id:
rs780861577
ExAC:
2:48915117 A / C
gnomAD v2:
2-48915117-A-C
gnomAD v4:
2-48687978-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687978A>C , CM000664.2:g.48687978A>C | GRCh38 |
| NC_000002.11:g.48915117A>C , CM000664.1:g.48915117A>C | GRCh37 |
| NC_000002.10:g.48768621A>C | NCBI36 |
| NG_008193.1:g.72764T>G | |
| NG_033050.1:g.163054A>C | |
| NG_008193.2:g.72764T>G | |
| NG_033050.2:g.163054A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1819T>G (LHCGR) MANE Select | ENSP00000294954.6:p.Leu607Val | |
| ENST00000294954.11:c.1819T>G (LHCGR) | ENSP00000294954.6:p.Leu607Val | |
| ENST00000401907.5:c.*131T>G (LHCGR) | ENSP00000385406.1:n.*131T>G | |
| ENST00000402114.6:c.3441+16298A>C (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16298A>C | |
| ENST00000403273.5:c.*563T>G (LHCGR) | ENSP00000385847.1:n.*563T>G | |
| ENST00000405626.5:c.1738T>G (LHCGR) | ENSP00000386033.1:p.Leu580Val | |
| ENST00000508440.1:c.276+16298A>C (GTF2A1L) | ENSP00000421474.1:n.276+16298A>C | |
| ENST00000602369.3:c.*220+6246T>G | ENSP00000473498.1:n.*220+6246T>G | |
| NM_000233.3:c.1819T>G (LHCGR) | NP_000224.2:p.Leu607Val | |
| NM_001198593.1:c.3441+16298A>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16298A>C | |
| XM_005264309.2:c.862T>G (LHCGR) | XP_005264366.1:p.Leu288Val | |
| XM_006712015.2:c.889T>G (LHCGR) | XP_006712078.1:p.Leu297Val | |
| XM_011532828.1:c.1744T>G (LHCGR) | XP_011531130.1:p.Leu582Val | |
| XM_011532829.1:c.1558T>G (LHCGR) | XP_011531131.1:p.Leu520Val | |
| XM_011532830.1:c.1477T>G (LHCGR) | XP_011531132.1:p.Leu493Val | |
| XM_011532831.1:c.1183T>G (LHCGR) | XP_011531133.1:p.Leu395Val | |
| XM_011532832.1:c.889T>G (LHCGR) | XP_011531134.1:p.Leu297Val | |
| XM_011532833.1:c.889T>G (LHCGR) | XP_011531135.1:p.Leu297Val | |
| XM_011532834.1:c.862T>G (LHCGR) | XP_011531136.1:p.Leu288Val | |
| XM_005264309.3:c.862T>G (LHCGR) | XP_005264366.1:p.Leu288Val | |
| XM_006712015.3:c.889T>G (LHCGR) | XP_006712078.1:p.Leu297Val | |
| XM_011532834.2:c.862T>G (LHCGR) | XP_011531136.1:p.Leu288Val | |
| XM_017004089.1:c.1564T>G (LHCGR) | XP_016859578.1:p.Leu522Val | |
| XM_017004090.1:c.1183T>G (LHCGR) | XP_016859579.1:p.Leu395Val | |
| NM_000233.4:c.1819T>G (LHCGR) MANE Select | NP_000224.2:p.Leu607Val | |
| NM_001198593.2:c.3441+16298A>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16298A>C |