Linked Data
dbSNP Id:
rs775399349
ExAC:
2:48921382 T / C
gnomAD v2:
2-48921382-T-C
gnomAD v3:
2-48694243-T-C
gnomAD v4:
2-48694243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48694243T>C , CM000664.2:g.48694243T>C | GRCh38 |
| NC_000002.11:g.48921382T>C , CM000664.1:g.48921382T>C | GRCh37 |
| NC_000002.10:g.48774886T>C | NCBI36 |
| NG_008193.1:g.66499A>G | |
| NG_033050.1:g.169319T>C | |
| NG_008193.2:g.66499A>G | |
| NG_033050.2:g.169319T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.928A>G (LHCGR) MANE Select | ENSP00000294954.6:p.Lys310Glu | |
| ENST00000294954.11:c.928A>G (LHCGR) | ENSP00000294954.6:p.Lys310Glu | |
| ENST00000401907.5:c.928A>G (LHCGR) | ENSP00000385406.1:p.Lys310Glu | |
| ENST00000402114.6:c.3441+22563T>C (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+22563T>C | |
| ENST00000403273.5:c.928A>G (LHCGR) | ENSP00000385847.1:p.Lys310Glu | |
| ENST00000405626.5:c.866+4372A>G (LHCGR) | ENSP00000386033.1:n.866+4372A>G | |
| ENST00000508440.1:c.276+22563T>C (GTF2A1L) | ENSP00000421474.1:n.276+22563T>C | |
| ENST00000602369.3:c.*201A>G | ENSP00000473498.1:n.*201A>G | |
| NM_000233.3:c.928A>G (LHCGR) | NP_000224.2:p.Lys310Glu | |
| NM_001198593.1:c.3441+22563T>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+22563T>C | |
| XM_005264309.2:c.-13A>G (LHCGR) | XP_005264366.1:n.-13A>G | |
| XM_011532828.1:c.853A>G (LHCGR) | XP_011531130.1:p.Lys285Glu | |
| XM_011532829.1:c.667A>G (LHCGR) | XP_011531131.1:p.Lys223Glu | |
| XM_011532830.1:c.606-5394A>G (LHCGR) | XP_011531132.1:n.606-5394A>G | |
| XM_011532831.1:c.292A>G (LHCGR) | XP_011531133.1:p.Lys98Glu | |
| XM_005264309.3:c.-13A>G (LHCGR) | XP_005264366.1:n.-13A>G | |
| XM_017004089.1:c.673A>G (LHCGR) | XP_016859578.1:p.Lys225Glu | |
| XM_017004090.1:c.292A>G (LHCGR) | XP_016859579.1:p.Lys98Glu | |
| NM_000233.4:c.928A>G (LHCGR) MANE Select | NP_000224.2:p.Lys310Glu | |
| NM_001198593.2:c.3441+22563T>C (STON1-GTF2A1L) | NP_001185522.1:n.3441+22563T>C |