Linked Data
ClinVar Variation Id:
775713
dbSNP Id:
rs61996318
ExAC:
2:48941162 G / T
gnomAD v2:
2-48941162-G-T
gnomAD v3:
2-48714023-G-T
gnomAD v4:
2-48714023-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48714023G>T , CM000664.2:g.48714023G>T | GRCh38 |
| NC_000002.11:g.48941162G>T , CM000664.1:g.48941162G>T | GRCh37 |
| NC_000002.10:g.48794666G>T | NCBI36 |
| NG_008193.1:g.46719C>A | |
| NG_033050.1:g.189099G>T | |
| NG_008193.2:g.46719C>A | |
| NG_033050.2:g.189099G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294954.12:c.568C>A (LHCGR) MANE Select | ENSP00000294954.6:p.Gln190Lys | |
| ENST00000294954.11:c.568C>A (LHCGR) | ENSP00000294954.6:p.Gln190Lys | |
| ENST00000401907.5:c.568C>A (LHCGR) | ENSP00000385406.1:p.Gln190Lys | |
| ENST00000402114.6:c.3441+42343G>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+42343G>T | |
| ENST00000403273.5:c.568C>A (LHCGR) | ENSP00000385847.1:p.Gln190Lys | |
| ENST00000405626.5:c.568C>A (LHCGR) | ENSP00000386033.1:p.Gln190Lys | |
| ENST00000477576.1:n.91C>A (LHCGR) | ||
| ENST00000508440.1:c.277-18870G>T (GTF2A1L) | ENSP00000421474.1:n.277-18870G>T | |
| ENST00000602369.3:c.493C>A | ENSP00000473498.1:p.Gln165Lys | |
| NM_000233.3:c.568C>A (LHCGR) | NP_000224.2:p.Gln190Lys | |
| NM_001198593.1:c.3441+42343G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+42343G>T | |
| XM_011532828.1:c.493C>A (LHCGR) | XP_011531130.1:p.Gln165Lys | |
| XM_011532829.1:c.493C>A (LHCGR) | XP_011531131.1:p.Gln165Lys | |
| XM_011532830.1:c.493C>A (LHCGR) | XP_011531132.1:p.Gln165Lys | |
| XM_011532831.1:c.-69C>A (LHCGR) | XP_011531133.1:n.-69C>A | |
| XM_017004089.1:c.499C>A (LHCGR) | XP_016859578.1:p.Gln167Lys | |
| NM_000233.4:c.568C>A (LHCGR) MANE Select | NP_000224.2:p.Gln190Lys | |
| NM_001198593.2:c.3441+42343G>T (STON1-GTF2A1L) | NP_001185522.1:n.3441+42343G>T |