Linked Data
dbSNP Id:
rs1392963049
gnomAD v2:
2-48915120-C-G
gnomAD v3:
2-48687981-C-G
gnomAD v4:
2-48687981-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687981C>G , CM000664.2:g.48687981C>G | GRCh38 |
| NC_000002.11:g.48915120C>G , CM000664.1:g.48915120C>G | GRCh37 |
| NC_000002.10:g.48768624C>G | NCBI36 |
| NG_008193.1:g.72761G>C | |
| NG_033050.1:g.163057C>G | |
| NG_008193.2:g.72761G>C | |
| NG_033050.2:g.163057C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1816G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Val606Leu | |
| ENST00000294954.11:c.1816G>C (LHCGR) | ENSP00000294954.6:p.Val606Leu | |
| ENST00000401907.5:c.*128G>C (LHCGR) | ENSP00000385406.1:n.*128G>C | |
| ENST00000402114.6:c.3441+16301C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16301C>G | |
| ENST00000403273.5:c.*560G>C (LHCGR) | ENSP00000385847.1:n.*560G>C | |
| ENST00000405626.5:c.1735G>C (LHCGR) | ENSP00000386033.1:p.Val579Leu | |
| ENST00000508440.1:c.276+16301C>G (GTF2A1L) | ENSP00000421474.1:n.276+16301C>G | |
| ENST00000602369.3:c.*220+6243G>C | ENSP00000473498.1:n.*220+6243G>C | |
| NM_000233.3:c.1816G>C (LHCGR) | NP_000224.2:p.Val606Leu | |
| NM_001198593.1:c.3441+16301C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16301C>G | |
| XM_005264309.2:c.859G>C (LHCGR) | XP_005264366.1:p.Val287Leu | |
| XM_006712015.2:c.886G>C (LHCGR) | XP_006712078.1:p.Val296Leu | |
| XM_011532828.1:c.1741G>C (LHCGR) | XP_011531130.1:p.Val581Leu | |
| XM_011532829.1:c.1555G>C (LHCGR) | XP_011531131.1:p.Val519Leu | |
| XM_011532830.1:c.1474G>C (LHCGR) | XP_011531132.1:p.Val492Leu | |
| XM_011532831.1:c.1180G>C (LHCGR) | XP_011531133.1:p.Val394Leu | |
| XM_011532832.1:c.886G>C (LHCGR) | XP_011531134.1:p.Val296Leu | |
| XM_011532833.1:c.886G>C (LHCGR) | XP_011531135.1:p.Val296Leu | |
| XM_011532834.1:c.859G>C (LHCGR) | XP_011531136.1:p.Val287Leu | |
| XM_005264309.3:c.859G>C (LHCGR) | XP_005264366.1:p.Val287Leu | |
| XM_006712015.3:c.886G>C (LHCGR) | XP_006712078.1:p.Val296Leu | |
| XM_011532834.2:c.859G>C (LHCGR) | XP_011531136.1:p.Val287Leu | |
| XM_017004089.1:c.1561G>C (LHCGR) | XP_016859578.1:p.Val521Leu | |
| XM_017004090.1:c.1180G>C (LHCGR) | XP_016859579.1:p.Val394Leu | |
| NM_000233.4:c.1816G>C (LHCGR) MANE Select | NP_000224.2:p.Val606Leu | |
| NM_001198593.2:c.3441+16301C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+16301C>G |