Linked Data
ClinVar Variation Id:
5061
dbSNP Id:
rs34911341
ExAC:
3:10331519 C / T
gnomAD v2:
3-10331519-C-T
gnomAD v3:
3-10289835-C-T
gnomAD v4:
3-10289835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10289835C>T , CM000665.2:g.10289835C>T | GRCh38 |
| NC_000003.11:g.10331519C>T , CM000665.1:g.10331519C>T | GRCh37 |
| NC_000003.10:g.10306519C>T | NCBI36 |
| NG_011560.1:g.8113G>A | |
| NG_033090.1:g.13884C>T | |
| NG_033090.2:g.13884C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335542.13:c.152G>A (GHRL) MANE Select | ENSP00000335074.8:p.Arg51Gln | |
| ENST00000287656.11:c.149G>A (GHRL) | ENSP00000287656.7:p.Arg50Gln | |
| ENST00000335542.12:c.152G>A (GHRL) | ENSP00000335074.8:p.Arg51Gln | |
| ENST00000422159.5:c.152G>A (GHRL) | ENSP00000405464.1:p.Arg51Gln | |
| ENST00000429122.1:c.152G>A (GHRL) | ENSP00000414819.1:p.Arg51Gln | |
| ENST00000430179.5:c.149G>A (GHRL) | ENSP00000399922.1:p.Arg50Gln | |
| ENST00000437422.6:c.116G>A (GHRL) | ENSP00000416768.2:p.Arg39Gln | |
| ENST00000439975.6:c.72+3007G>A (GHRL) | ENSP00000403725.2:n.72+3007G>A | |
| ENST00000446937.2:c.72+3007G>A (GHRL) | ENSP00000394923.2:n.72+3007G>A | |
| ENST00000449238.6:c.113G>A (GHRL) | ENSP00000388145.2:p.Arg38Gln | |
| ENST00000457360.5:c.152G>A (GHRL) | ENSP00000391406.1:p.Arg51Gln | |
| ENST00000481287.5:n.329G>A (GHRL) | ||
| ENST00000491589.5:n.243G>A (GHRL) | ||
| NM_001134941.2:c.149G>A (GHRL) | NP_001128413.1:p.Arg50Gln | |
| NM_001134944.1:c.116G>A (GHRL) | NP_001128416.1:p.Arg39Gln | |
| NM_001134945.1:c.113G>A (GHRL) | NP_001128417.1:p.Arg38Gln | |
| NM_001134946.1:c.72+3007G>A (GHRL) | NP_001128418.1:n.72+3007G>A | |
| NM_001302821.1:c.152G>A (GHRL) | NP_001289750.1:p.Arg51Gln | |
| NM_001302822.1:c.152G>A (GHRL) | NP_001289751.1:p.Arg51Gln | |
| NM_001302823.1:c.149G>A (GHRL) | NP_001289752.1:p.Arg50Gln | |
| NM_001302824.1:c.152G>A (GHRL) | NP_001289753.1:p.Arg51Gln | |
| NM_001302825.1:c.152G>A (GHRL) | NP_001289754.1:p.Arg51Gln | |
| NM_016362.4:c.152G>A (GHRL) | NP_057446.1:p.Arg51Gln | |
| NR_004431.3:n.383+1733C>T (GHRLOS) | ||
| NR_024144.2:n.466+1733C>T (GHRLOS) | ||
| NR_024145.2:n.555+1733C>T (GHRLOS) | ||
| NR_073566.1:n.566+1729C>T (GHRLOS) | ||
| NR_073567.1:n.554+1733C>T (GHRLOS) | ||
| NR_073568.1:n.409+1733C>T (GHRLOS) | ||
| NR_126505.1:n.106+3007G>A (GHRL) | ||
| XM_017006612.2:c.152G>A (GHRL) | XP_016862101.1:p.Arg51Gln | |
| XM_017006613.2:c.149G>A (GHRL) | XP_016862102.1:p.Arg50Gln | |
| XM_024453594.1:c.152G>A (GHRL) | XP_024309362.1:p.Arg51Gln | |
| NM_001134941.3:c.149G>A (GHRL) | NP_001128413.1:p.Arg50Gln | |
| NM_001134944.2:c.116G>A (GHRL) | NP_001128416.1:p.Arg39Gln | |
| NM_001134945.2:c.113G>A (GHRL) | NP_001128417.1:p.Arg38Gln | |
| NM_001134946.2:c.72+3007G>A (GHRL) | NP_001128418.1:n.72+3007G>A | |
| NM_001302821.2:c.152G>A (GHRL) | NP_001289750.1:p.Arg51Gln | |
| NM_001302822.2:c.152G>A (GHRL) | NP_001289751.1:p.Arg51Gln | |
| NM_001302823.2:c.149G>A (GHRL) | NP_001289752.1:p.Arg50Gln | |
| NM_001302824.2:c.152G>A (GHRL) | NP_001289753.1:p.Arg51Gln | |
| NM_001302825.2:c.152G>A (GHRL) | NP_001289754.1:p.Arg51Gln | |
| NM_016362.5:c.152G>A (GHRL) MANE Select | NP_057446.1:p.Arg51Gln | |
| NR_126505.2:n.106+3007G>A (GHRL) |