Linked Data
dbSNP Id:
rs200467316
ExAC:
2:48914951 T / C
gnomAD v2:
2-48914951-T-C
gnomAD v3:
2-48687812-T-C
gnomAD v4:
2-48687812-T-C
COSMIC:
COSM5603948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687812T>C , CM000664.2:g.48687812T>C | GRCh38 |
| NC_000002.11:g.48914951T>C , CM000664.1:g.48914951T>C | GRCh37 |
| NC_000002.10:g.48768455T>C | NCBI36 |
| NG_008193.1:g.72930A>G | |
| NG_033050.1:g.162888T>C | |
| NG_008193.2:g.72930A>G | |
| NG_033050.2:g.162888T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1985A>G (LHCGR) MANE Select | ENSP00000294954.6:p.Asn662Ser | |
| ENST00000294954.11:c.1985A>G (LHCGR) | ENSP00000294954.6:p.Asn662Ser | |
| ENST00000401907.5:c.*297A>G (LHCGR) | ENSP00000385406.1:n.*297A>G | |
| ENST00000402114.6:c.3441+16132T>C (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16132T>C | |
| ENST00000403273.5:c.*729A>G (LHCGR) | ENSP00000385847.1:n.*729A>G | |
| ENST00000405626.5:c.1904A>G (LHCGR) | ENSP00000386033.1:p.Asn635Ser | |
| ENST00000508440.1:c.276+16132T>C (GTF2A1L) | ENSP00000421474.1:n.276+16132T>C | |
| ENST00000602369.3:c.*220+6412A>G | ENSP00000473498.1:n.*220+6412A>G | |
| NM_000233.3:c.1985A>G (LHCGR) | NP_000224.2:p.Asn662Ser | |
| NM_001198593.1:c.3441+16132T>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16132T>C | |
| XM_005264309.2:c.1028A>G (LHCGR) | XP_005264366.1:p.Asn343Ser | |
| XM_006712015.2:c.1055A>G (LHCGR) | XP_006712078.1:p.Asn352Ser | |
| XM_011532828.1:c.1910A>G (LHCGR) | XP_011531130.1:p.Asn637Ser | |
| XM_011532829.1:c.1724A>G (LHCGR) | XP_011531131.1:p.Asn575Ser | |
| XM_011532830.1:c.1643A>G (LHCGR) | XP_011531132.1:p.Asn548Ser | |
| XM_011532831.1:c.1349A>G (LHCGR) | XP_011531133.1:p.Asn450Ser | |
| XM_011532832.1:c.1055A>G (LHCGR) | XP_011531134.1:p.Asn352Ser | |
| XM_011532833.1:c.1055A>G (LHCGR) | XP_011531135.1:p.Asn352Ser | |
| XM_011532834.1:c.1028A>G (LHCGR) | XP_011531136.1:p.Asn343Ser | |
| XM_005264309.3:c.1028A>G (LHCGR) | XP_005264366.1:p.Asn343Ser | |
| XM_006712015.3:c.1055A>G (LHCGR) | XP_006712078.1:p.Asn352Ser | |
| XM_011532834.2:c.1028A>G (LHCGR) | XP_011531136.1:p.Asn343Ser | |
| XM_017004089.1:c.1730A>G (LHCGR) | XP_016859578.1:p.Asn577Ser | |
| XM_017004090.1:c.1349A>G (LHCGR) | XP_016859579.1:p.Asn450Ser | |
| NM_000233.4:c.1985A>G (LHCGR) MANE Select | NP_000224.2:p.Asn662Ser | |
| NM_001198593.2:c.3441+16132T>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16132T>C |