Linked Data
dbSNP Id:
rs766072848
ExAC:
2:48914901 T / TA
gnomAD v2:
2-48914901-T-TA
gnomAD v4:
2-48687762-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687762_48687763insA , CM000664.2:g.48687762_48687763insA | GRCh38 |
| NC_000002.11:g.48914901_48914902insA , CM000664.1:g.48914901_48914902insA | GRCh37 |
| NC_000002.10:g.48768405_48768406insA | NCBI36 |
| NG_008193.1:g.72979_72980insT | |
| NG_033050.1:g.162838_162839insA | |
| NG_008193.2:g.72979_72980insT | |
| NG_033050.2:g.162838_162839insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.2034_2035insT (LHCGR) MANE Select | ENSP00000294954.6:p.Lys679Ter | |
| ENST00000294954.11:c.2034_2035insT (LHCGR) | ENSP00000294954.6:p.Lys679Ter | |
| ENST00000401907.5:c.*346_*347insT (LHCGR) | ENSP00000385406.1:n.*346_*347insT | |
| ENST00000402114.6:c.3441+16082_3441+16083insA (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16082_3441+16083insA | |
| ENST00000403273.5:c.*778_*779insT (LHCGR) | ENSP00000385847.1:n.*778_*779insT | |
| ENST00000405626.5:c.1953_1954insT (LHCGR) | ENSP00000386033.1:p.Lys652Ter | |
| ENST00000508440.1:c.276+16082_276+16083insA (GTF2A1L) | ENSP00000421474.1:n.276+16082_276+16083insA | |
| ENST00000602369.3:c.*220+6461_*220+6462insT | ENSP00000473498.1:n.*220+6461_*220+6462insT | |
| NM_000233.3:c.2034_2035insT (LHCGR) | NP_000224.2:p.Lys679Ter | |
| NM_001198593.1:c.3441+16082_3441+16083insA (STON1-GTF2A1L) | NP_001185522.1:n.3441+16082_3441+16083insA | |
| XM_005264309.2:c.1077_1078insT (LHCGR) | XP_005264366.1:p.Lys360Ter | |
| XM_006712015.2:c.1104_1105insT (LHCGR) | XP_006712078.1:p.Lys369Ter | |
| XM_011532828.1:c.1959_1960insT (LHCGR) | XP_011531130.1:p.Lys654Ter | |
| XM_011532829.1:c.1773_1774insT (LHCGR) | XP_011531131.1:p.Lys592Ter | |
| XM_011532830.1:c.1692_1693insT (LHCGR) | XP_011531132.1:p.Lys565Ter | |
| XM_011532831.1:c.1398_1399insT (LHCGR) | XP_011531133.1:p.Lys467Ter | |
| XM_011532832.1:c.1104_1105insT (LHCGR) | XP_011531134.1:p.Lys369Ter | |
| XM_011532833.1:c.1104_1105insT (LHCGR) | XP_011531135.1:p.Lys369Ter | |
| XM_011532834.1:c.1077_1078insT (LHCGR) | XP_011531136.1:p.Lys360Ter | |
| XM_005264309.3:c.1077_1078insT (LHCGR) | XP_005264366.1:p.Lys360Ter | |
| XM_006712015.3:c.1104_1105insT (LHCGR) | XP_006712078.1:p.Lys369Ter | |
| XM_011532834.2:c.1077_1078insT (LHCGR) | XP_011531136.1:p.Lys360Ter | |
| XM_017004089.1:c.1779_1780insT (LHCGR) | XP_016859578.1:p.Lys594Ter | |
| XM_017004090.1:c.1398_1399insT (LHCGR) | XP_016859579.1:p.Lys467Ter | |
| NM_000233.4:c.2034_2035insT (LHCGR) MANE Select | NP_000224.2:p.Lys679Ter | |
| NM_001198593.2:c.3441+16082_3441+16083insA (STON1-GTF2A1L) | NP_001185522.1:n.3441+16082_3441+16083insA |