Linked Data
ClinVar Variation Id:
1679516
ClinVar RCV Id:
RCV002227395
dbSNP Id:
rs4539842
ExAC:
2:48982764 A / T
gnomAD v2:
2-48982764-A-T
gnomAD v3:
2-48755625-A-T
gnomAD v4:
2-48755625-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755625A>T , CM000664.2:g.48755625A>T | GRCh38 |
| NC_000002.11:g.48982764A>T , CM000664.1:g.48982764A>T | GRCh37 |
| NC_000002.10:g.48836268A>T | NCBI36 |
| NG_008193.1:g.5117T>A | |
| NG_033050.1:g.230701A>T | |
| NG_008193.2:g.5117T>A | |
| NG_033050.2:g.230701A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.47T>A (LHCGR) MANE Select | ENSP00000294954.6:p.Leu16Gln | |
| ENST00000294954.11:c.47T>A (LHCGR) | ENSP00000294954.6:p.Leu16Gln | |
| ENST00000401907.5:c.47T>A (LHCGR) | ENSP00000385406.1:p.Leu16Gln | |
| ENST00000402114.6:c.3442-20655A>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3442-20655A>T | |
| ENST00000403273.5:c.47T>A (LHCGR) | ENSP00000385847.1:p.Leu16Gln | |
| ENST00000405626.5:c.47T>A (LHCGR) | ENSP00000386033.1:p.Leu16Gln | |
| ENST00000602369.3:c.47T>A | ENSP00000473498.1:p.Leu16Gln | |
| NM_000233.3:c.47T>A (LHCGR) | NP_000224.2:p.Leu16Gln | |
| NM_001198593.1:c.3442-20655A>T (STON1-GTF2A1L) | NP_001185522.1:n.3442-20655A>T | |
| XM_011532828.1:c.47T>A (LHCGR) | XP_011531130.1:p.Leu16Gln | |
| XM_011532829.1:c.47T>A (LHCGR) | XP_011531131.1:p.Leu16Gln | |
| XM_011532830.1:c.47T>A (LHCGR) | XP_011531132.1:p.Leu16Gln | |
| NM_000233.4:c.47T>A (LHCGR) MANE Select | NP_000224.2:p.Leu16Gln | |
| NM_001198593.2:c.3442-20655A>T (STON1-GTF2A1L) | NP_001185522.1:n.3442-20655A>T |