Linked Data
dbSNP Id:
rs759013538
ExAC:
2:48915569 G / C
gnomAD v2:
2-48915569-G-C
gnomAD v4:
2-48688430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688430G>C , CM000664.2:g.48688430G>C | GRCh38 |
| NC_000002.11:g.48915569G>C , CM000664.1:g.48915569G>C | GRCh37 |
| NC_000002.10:g.48769073G>C | NCBI36 |
| NG_008193.1:g.72312C>G | |
| NG_033050.1:g.163506G>C | |
| NG_008193.2:g.72312C>G | |
| NG_033050.2:g.163506G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1367C>G (LHCGR) MANE Select | ENSP00000294954.6:p.Thr456Ser | |
| ENST00000294954.11:c.1367C>G (LHCGR) | ENSP00000294954.6:p.Thr456Ser | |
| ENST00000401907.5:c.948-291C>G (LHCGR) | ENSP00000385406.1:n.948-291C>G | |
| ENST00000402114.6:c.3441+16750G>C (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16750G>C | |
| ENST00000403273.5:c.*111C>G (LHCGR) | ENSP00000385847.1:n.*111C>G | |
| ENST00000405626.5:c.1286C>G (LHCGR) | ENSP00000386033.1:p.Thr429Ser | |
| ENST00000508440.1:c.276+16750G>C (GTF2A1L) | ENSP00000421474.1:n.276+16750G>C | |
| ENST00000602369.3:c.*220+5794C>G | ENSP00000473498.1:n.*220+5794C>G | |
| NM_000233.3:c.1367C>G (LHCGR) | NP_000224.2:p.Thr456Ser | |
| NM_001198593.1:c.3441+16750G>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16750G>C | |
| XM_005264309.2:c.410C>G (LHCGR) | XP_005264366.1:p.Thr137Ser | |
| XM_006712015.2:c.437C>G (LHCGR) | XP_006712078.1:p.Thr146Ser | |
| XM_011532828.1:c.1292C>G (LHCGR) | XP_011531130.1:p.Thr431Ser | |
| XM_011532829.1:c.1106C>G (LHCGR) | XP_011531131.1:p.Thr369Ser | |
| XM_011532830.1:c.1025C>G (LHCGR) | XP_011531132.1:p.Thr342Ser | |
| XM_011532831.1:c.731C>G (LHCGR) | XP_011531133.1:p.Thr244Ser | |
| XM_011532832.1:c.437C>G (LHCGR) | XP_011531134.1:p.Thr146Ser | |
| XM_011532833.1:c.437C>G (LHCGR) | XP_011531135.1:p.Thr146Ser | |
| XM_011532834.1:c.410C>G (LHCGR) | XP_011531136.1:p.Thr137Ser | |
| XM_005264309.3:c.410C>G (LHCGR) | XP_005264366.1:p.Thr137Ser | |
| XM_006712015.3:c.437C>G (LHCGR) | XP_006712078.1:p.Thr146Ser | |
| XM_011532834.2:c.410C>G (LHCGR) | XP_011531136.1:p.Thr137Ser | |
| XM_017004089.1:c.1112C>G (LHCGR) | XP_016859578.1:p.Thr371Ser | |
| XM_017004090.1:c.731C>G (LHCGR) | XP_016859579.1:p.Thr244Ser | |
| NM_000233.4:c.1367C>G (LHCGR) MANE Select | NP_000224.2:p.Thr456Ser | |
| NM_001198593.2:c.3441+16750G>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+16750G>C |