Linked Data
ClinVar Variation Id:
336461
dbSNP Id:
rs114320052
ExAC:
2:48915576 C / T
gnomAD v2:
2-48915576-C-T
gnomAD v3:
2-48688437-C-T
gnomAD v4:
2-48688437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688437C>T , CM000664.2:g.48688437C>T | GRCh38 |
| NC_000002.11:g.48915576C>T , CM000664.1:g.48915576C>T | GRCh37 |
| NC_000002.10:g.48769080C>T | NCBI36 |
| NG_008193.1:g.72305G>A | |
| NG_033050.1:g.163513C>T | |
| NG_008193.2:g.72305G>A | |
| NG_033050.2:g.163513C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1360G>A (LHCGR) MANE Select | ENSP00000294954.6:p.Val454Ile | |
| ENST00000294954.11:c.1360G>A (LHCGR) | ENSP00000294954.6:p.Val454Ile | |
| ENST00000401907.5:c.948-298G>A (LHCGR) | ENSP00000385406.1:n.948-298G>A | |
| ENST00000402114.6:c.3441+16757C>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16757C>T | |
| ENST00000403273.5:c.*104G>A (LHCGR) | ENSP00000385847.1:n.*104G>A | |
| ENST00000405626.5:c.1279G>A (LHCGR) | ENSP00000386033.1:p.Val427Ile | |
| ENST00000508440.1:c.276+16757C>T (GTF2A1L) | ENSP00000421474.1:n.276+16757C>T | |
| ENST00000602369.3:c.*220+5787G>A | ENSP00000473498.1:n.*220+5787G>A | |
| NM_000233.3:c.1360G>A (LHCGR) | NP_000224.2:p.Val454Ile | |
| NM_001198593.1:c.3441+16757C>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16757C>T | |
| XM_005264309.2:c.403G>A (LHCGR) | XP_005264366.1:p.Val135Ile | |
| XM_006712015.2:c.430G>A (LHCGR) | XP_006712078.1:p.Val144Ile | |
| XM_011532828.1:c.1285G>A (LHCGR) | XP_011531130.1:p.Val429Ile | |
| XM_011532829.1:c.1099G>A (LHCGR) | XP_011531131.1:p.Val367Ile | |
| XM_011532830.1:c.1018G>A (LHCGR) | XP_011531132.1:p.Val340Ile | |
| XM_011532831.1:c.724G>A (LHCGR) | XP_011531133.1:p.Val242Ile | |
| XM_011532832.1:c.430G>A (LHCGR) | XP_011531134.1:p.Val144Ile | |
| XM_011532833.1:c.430G>A (LHCGR) | XP_011531135.1:p.Val144Ile | |
| XM_011532834.1:c.403G>A (LHCGR) | XP_011531136.1:p.Val135Ile | |
| XM_005264309.3:c.403G>A (LHCGR) | XP_005264366.1:p.Val135Ile | |
| XM_006712015.3:c.430G>A (LHCGR) | XP_006712078.1:p.Val144Ile | |
| XM_011532834.2:c.403G>A (LHCGR) | XP_011531136.1:p.Val135Ile | |
| XM_017004089.1:c.1105G>A (LHCGR) | XP_016859578.1:p.Val369Ile | |
| XM_017004090.1:c.724G>A (LHCGR) | XP_016859579.1:p.Val242Ile | |
| NM_000233.4:c.1360G>A (LHCGR) MANE Select | NP_000224.2:p.Val454Ile | |
| NM_001198593.2:c.3441+16757C>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16757C>T |