Linked Data
dbSNP Id:
rs150671167
ExAC:
2:48915095 A / T
gnomAD v2:
2-48915095-A-T
gnomAD v4:
2-48687956-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48687956A>T , CM000664.2:g.48687956A>T | GRCh38 |
| NC_000002.11:g.48915095A>T , CM000664.1:g.48915095A>T | GRCh37 |
| NC_000002.10:g.48768599A>T | NCBI36 |
| NG_008193.1:g.72786T>A | |
| NG_033050.1:g.163032A>T | |
| NG_008193.2:g.72786T>A | |
| NG_033050.2:g.163032A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1841T>A (LHCGR) MANE Select | ENSP00000294954.6:p.Ile614Asn | |
| ENST00000294954.11:c.1841T>A (LHCGR) | ENSP00000294954.6:p.Ile614Asn | |
| ENST00000401907.5:c.*153T>A (LHCGR) | ENSP00000385406.1:n.*153T>A | |
| ENST00000402114.6:c.3441+16276A>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+16276A>T | |
| ENST00000403273.5:c.*585T>A (LHCGR) | ENSP00000385847.1:n.*585T>A | |
| ENST00000405626.5:c.1760T>A (LHCGR) | ENSP00000386033.1:p.Ile587Asn | |
| ENST00000508440.1:c.276+16276A>T (GTF2A1L) | ENSP00000421474.1:n.276+16276A>T | |
| ENST00000602369.3:c.*220+6268T>A | ENSP00000473498.1:n.*220+6268T>A | |
| NM_000233.3:c.1841T>A (LHCGR) | NP_000224.2:p.Ile614Asn | |
| NM_001198593.1:c.3441+16276A>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16276A>T | |
| XM_005264309.2:c.884T>A (LHCGR) | XP_005264366.1:p.Ile295Asn | |
| XM_006712015.2:c.911T>A (LHCGR) | XP_006712078.1:p.Ile304Asn | |
| XM_011532828.1:c.1766T>A (LHCGR) | XP_011531130.1:p.Ile589Asn | |
| XM_011532829.1:c.1580T>A (LHCGR) | XP_011531131.1:p.Ile527Asn | |
| XM_011532830.1:c.1499T>A (LHCGR) | XP_011531132.1:p.Ile500Asn | |
| XM_011532831.1:c.1205T>A (LHCGR) | XP_011531133.1:p.Ile402Asn | |
| XM_011532832.1:c.911T>A (LHCGR) | XP_011531134.1:p.Ile304Asn | |
| XM_011532833.1:c.911T>A (LHCGR) | XP_011531135.1:p.Ile304Asn | |
| XM_011532834.1:c.884T>A (LHCGR) | XP_011531136.1:p.Ile295Asn | |
| XM_005264309.3:c.884T>A (LHCGR) | XP_005264366.1:p.Ile295Asn | |
| XM_006712015.3:c.911T>A (LHCGR) | XP_006712078.1:p.Ile304Asn | |
| XM_011532834.2:c.884T>A (LHCGR) | XP_011531136.1:p.Ile295Asn | |
| XM_017004089.1:c.1586T>A (LHCGR) | XP_016859578.1:p.Ile529Asn | |
| XM_017004090.1:c.1205T>A (LHCGR) | XP_016859579.1:p.Ile402Asn | |
| NM_000233.4:c.1841T>A (LHCGR) MANE Select | NP_000224.2:p.Ile614Asn | |
| NM_001198593.2:c.3441+16276A>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+16276A>T |