Linked Data
ClinVar Variation Id:
14393
ClinVar RCV Id:
RCV000015472
dbSNP Id:
rs121912525
ExAC:
2:48915089 G / T
gnomAD v2:
2-48915089-G-T
gnomAD v3:
2-48687950-G-T
gnomAD v4:
2-48687950-G-T
PubMed:
PMID:8559204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687950G>T , CM000664.2:g.48687950G>T | GRCh38 |
| NC_000002.11:g.48915089G>T , CM000664.1:g.48915089G>T | GRCh37 |
| NC_000002.10:g.48768593G>T | NCBI36 |
| NG_008193.1:g.72792C>A | |
| NG_033050.1:g.163026G>T | |
| NG_008193.2:g.72792C>A | |
| NG_033050.2:g.163026G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.1847C>A (LHCGR) MANE Select | ENSP00000294954.6:p.Ser616Tyr | |
| ENST00000294954.11:c.1847C>A (LHCGR) | ENSP00000294954.6:p.Ser616Tyr | |
| ENST00000401907.5:c.*159C>A (LHCGR) | ENSP00000385406.1:n.*159C>A | |
| ENST00000402114.6:c.3441+16270G>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16270G>T | |
| ENST00000403273.5:c.*591C>A (LHCGR) | ENSP00000385847.1:n.*591C>A | |
| ENST00000405626.5:c.1766C>A (LHCGR) | ENSP00000386033.1:p.Ser589Tyr | |
| ENST00000508440.1:c.276+16270G>T (GTF2A1L) | ENSP00000421474.1:n.276+16270G>T | |
| ENST00000602369.3:c.*220+6274C>A | ENSP00000473498.1:n.*220+6274C>A | |
| NM_000233.3:c.1847C>A (LHCGR) | NP_000224.2:p.Ser616Tyr | |
| NM_001198593.1:c.3441+16270G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16270G>T | |
| XM_005264309.2:c.890C>A (LHCGR) | XP_005264366.1:p.Ser297Tyr | |
| XM_006712015.2:c.917C>A (LHCGR) | XP_006712078.1:p.Ser306Tyr | |
| XM_011532828.1:c.1772C>A (LHCGR) | XP_011531130.1:p.Ser591Tyr | |
| XM_011532829.1:c.1586C>A (LHCGR) | XP_011531131.1:p.Ser529Tyr | |
| XM_011532830.1:c.1505C>A (LHCGR) | XP_011531132.1:p.Ser502Tyr | |
| XM_011532831.1:c.1211C>A (LHCGR) | XP_011531133.1:p.Ser404Tyr | |
| XM_011532832.1:c.917C>A (LHCGR) | XP_011531134.1:p.Ser306Tyr | |
| XM_011532833.1:c.917C>A (LHCGR) | XP_011531135.1:p.Ser306Tyr | |
| XM_011532834.1:c.890C>A (LHCGR) | XP_011531136.1:p.Ser297Tyr | |
| XM_005264309.3:c.890C>A (LHCGR) | XP_005264366.1:p.Ser297Tyr | |
| XM_006712015.3:c.917C>A (LHCGR) | XP_006712078.1:p.Ser306Tyr | |
| XM_011532834.2:c.890C>A (LHCGR) | XP_011531136.1:p.Ser297Tyr | |
| XM_017004089.1:c.1592C>A (LHCGR) | XP_016859578.1:p.Ser531Tyr | |
| XM_017004090.1:c.1211C>A (LHCGR) | XP_016859579.1:p.Ser404Tyr | |
| NM_000233.4:c.1847C>A (LHCGR) MANE Select | NP_000224.2:p.Ser616Tyr | |
| NM_001198593.2:c.3441+16270G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16270G>T |