Linked Data
ClinVar Variation Id:
419489
ClinVar RCV Id:
RCV000480873
dbSNP Id:
rs200639521
ExAC:
2:48952813 A / G
gnomAD v2:
2-48952813-A-G
gnomAD v3:
2-48725674-A-G
gnomAD v4:
2-48725674-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48725674A>G , CM000664.2:g.48725674A>G | GRCh38 |
| NC_000002.11:g.48952813A>G , CM000664.1:g.48952813A>G | GRCh37 |
| NC_000002.10:g.48806317A>G | NCBI36 |
| NG_008193.1:g.35068T>C | |
| NG_033050.1:g.200750A>G | |
| NG_008193.2:g.35068T>C | |
| NG_033050.2:g.200750A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.383+2T>C (LHCGR) MANE Select | ENSP00000294954.6:n.383+2T>C | |
| ENST00000294954.11:c.383+2T>C (LHCGR) | ENSP00000294954.6:n.383+2T>C | |
| ENST00000401907.5:c.383+2T>C (LHCGR) | ENSP00000385406.1:n.383+2T>C | |
| ENST00000402114.6:c.3442-50606A>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3442-50606A>G | |
| ENST00000403273.5:c.383+2T>C (LHCGR) | ENSP00000385847.1:n.383+2T>C | |
| ENST00000405626.5:c.383+2T>C (LHCGR) | ENSP00000386033.1:n.383+2T>C | |
| ENST00000428232.2:c.281+2T>C (LHCGR) | ENSP00000403748.1:n.281+2T>C | |
| ENST00000508440.1:c.277-7219A>G (GTF2A1L) | ENSP00000421474.1:n.277-7219A>G | |
| ENST00000602369.3:c.308+2T>C | ENSP00000473498.1:n.308+2T>C | |
| NM_000233.3:c.383+2T>C (LHCGR) | NP_000224.2:n.383+2T>C | |
| NM_001198593.1:c.3442-50606A>G (STON1-GTF2A1L) | NP_001185522.1:n.3442-50606A>G | |
| XM_011532828.1:c.308+2T>C (LHCGR) | XP_011531130.1:n.308+2T>C | |
| XM_011532829.1:c.308+2T>C (LHCGR) | XP_011531131.1:n.308+2T>C | |
| XM_011532830.1:c.308+2T>C (LHCGR) | XP_011531132.1:n.308+2T>C | |
| XM_017004089.1:c.314+2T>C (LHCGR) | XP_016859578.1:n.314+2T>C | |
| NM_000233.4:c.383+2T>C (LHCGR) MANE Select | NP_000224.2:n.383+2T>C | |
| NM_001198593.2:c.3442-50606A>G (STON1-GTF2A1L) | NP_001185522.1:n.3442-50606A>G |