Linked Data
dbSNP Id:
rs887501453
gnomAD v2:
2-48982840-C-A
gnomAD v3:
2-48755701-C-A
gnomAD v4:
2-48755701-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755701C>A , CM000664.2:g.48755701C>A | GRCh38 |
| NC_000002.11:g.48982840C>A , CM000664.1:g.48982840C>A | GRCh37 |
| NC_000002.10:g.48836344C>A | NCBI36 |
| NG_008193.1:g.5041G>T | |
| NG_033050.1:g.230777C>A | |
| NG_008193.2:g.5041G>T | |
| NG_033050.2:g.230777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.-30G>T (LHCGR) MANE Select | ENSP00000294954.6:n.-30G>T | |
| ENST00000401907.5:c.-30G>T (LHCGR) | ENSP00000385406.1:n.-30G>T | |
| ENST00000402114.6:c.3442-20579C>A (STON1-GTF2A1L) | ENSP00000385701.1:n.3442-20579C>A | |
| ENST00000403273.5:c.-30G>T (LHCGR) | ENSP00000385847.1:n.-30G>T | |
| ENST00000602369.3:c.-30G>T | ENSP00000473498.1:n.-30G>T | |
| NM_000233.3:c.-30G>T (LHCGR) | NP_000224.2:n.-30G>T | |
| NM_001198593.1:c.3442-20579C>A (STON1-GTF2A1L) | NP_001185522.1:n.3442-20579C>A | |
| XM_011532828.1:c.-30G>T (LHCGR) | XP_011531130.1:n.-30G>T | |
| XM_011532829.1:c.-30G>T (LHCGR) | XP_011531131.1:n.-30G>T | |
| XM_011532830.1:c.-30G>T (LHCGR) | XP_011531132.1:n.-30G>T | |
| NM_000233.4:c.-30G>T (LHCGR) MANE Select | NP_000224.2:n.-30G>T | |
| NM_001198593.2:c.3442-20579C>A (STON1-GTF2A1L) | NP_001185522.1:n.3442-20579C>A |