Linked Data
ClinVar Variation Id:
14406
ClinVar RCV Id:
RCV000015487
dbSNP Id:
rs121912533
PubMed:
PMID:11134146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688694A>G , CM000664.2:g.48688694A>G | GRCh38 |
| NC_000002.11:g.48915833A>G , CM000664.1:g.48915833A>G | GRCh37 |
| NC_000002.10:g.48769337A>G | NCBI36 |
| NG_008193.1:g.72048T>C | |
| NG_033050.1:g.163770A>G | |
| NG_008193.2:g.72048T>C | |
| NG_033050.2:g.163770A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1103T>C (LHCGR) MANE Select | ENSP00000294954.6:p.Leu368Pro | |
| ENST00000294954.11:c.1103T>C (LHCGR) | ENSP00000294954.6:p.Leu368Pro | |
| ENST00000401907.5:c.948-555T>C (LHCGR) | ENSP00000385406.1:n.948-555T>C | |
| ENST00000402114.6:c.3441+17014A>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+17014A>G | |
| ENST00000403273.5:c.948-111T>C (LHCGR) | ENSP00000385847.1:n.948-111T>C | |
| ENST00000405626.5:c.1022T>C (LHCGR) | ENSP00000386033.1:p.Leu341Pro | |
| ENST00000508440.1:c.276+17014A>G (GTF2A1L) | ENSP00000421474.1:n.276+17014A>G | |
| ENST00000602369.3:c.*220+5530T>C | ENSP00000473498.1:n.*220+5530T>C | |
| NM_000233.3:c.1103T>C (LHCGR) | NP_000224.2:p.Leu368Pro | |
| NM_001198593.1:c.3441+17014A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17014A>G | |
| XM_005264309.2:c.146T>C (LHCGR) | XP_005264366.1:p.Leu49Pro | |
| XM_006712015.2:c.173T>C (LHCGR) | XP_006712078.1:p.Leu58Pro | |
| XM_011532828.1:c.1028T>C (LHCGR) | XP_011531130.1:p.Leu343Pro | |
| XM_011532829.1:c.842T>C (LHCGR) | XP_011531131.1:p.Leu281Pro | |
| XM_011532830.1:c.761T>C (LHCGR) | XP_011531132.1:p.Leu254Pro | |
| XM_011532831.1:c.467T>C (LHCGR) | XP_011531133.1:p.Leu156Pro | |
| XM_011532832.1:c.173T>C (LHCGR) | XP_011531134.1:p.Leu58Pro | |
| XM_011532833.1:c.173T>C (LHCGR) | XP_011531135.1:p.Leu58Pro | |
| XM_011532834.1:c.146T>C (LHCGR) | XP_011531136.1:p.Leu49Pro | |
| XM_005264309.3:c.146T>C (LHCGR) | XP_005264366.1:p.Leu49Pro | |
| XM_006712015.3:c.173T>C (LHCGR) | XP_006712078.1:p.Leu58Pro | |
| XM_011532834.2:c.146T>C (LHCGR) | XP_011531136.1:p.Leu49Pro | |
| XM_017004089.1:c.848T>C (LHCGR) | XP_016859578.1:p.Leu283Pro | |
| XM_017004090.1:c.467T>C (LHCGR) | XP_016859579.1:p.Leu156Pro | |
| NM_000233.4:c.1103T>C (LHCGR) MANE Select | NP_000224.2:p.Leu368Pro | |
| NM_001198593.2:c.3441+17014A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17014A>G |