Linked Data
ClinVar Variation Id:
5063
ClinVar RCV Id:
RCV001723541
dbSNP Id:
rs4684677
ExAC:
3:10328453 T / A
gnomAD v2:
3-10328453-T-A
gnomAD v3:
3-10286769-T-A
gnomAD v4:
3-10286769-T-A
PubMed:
PMID:12050239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10286769T>A , CM000665.2:g.10286769T>A | GRCh38 |
| NC_000003.11:g.10328453T>A , CM000665.1:g.10328453T>A | GRCh37 |
| NC_000003.10:g.10303453T>A | NCBI36 |
| NG_011560.1:g.11179A>T | |
| NG_033090.1:g.10818T>A | |
| NG_033090.2:g.10818T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335542.13:c.269A>T (GHRL) MANE Select | ENSP00000335074.8:p.Gln90Leu | |
| ENST00000287656.11:c.266A>T (GHRL) | ENSP00000287656.7:p.Gln89Leu | |
| ENST00000335542.12:c.269A>T (GHRL) | ENSP00000335074.8:p.Gln90Leu | |
| ENST00000422159.5:c.226-875A>T (GHRL) | ENSP00000405464.1:n.226-875A>T | |
| ENST00000429122.1:c.269A>T (GHRL) | ENSP00000414819.1:p.Gln90Leu | |
| ENST00000430179.5:c.266A>T (GHRL) | ENSP00000399922.1:p.Gln89Leu | |
| ENST00000437422.6:c.233A>T (GHRL) | ENSP00000416768.2:p.Gln78Leu | |
| ENST00000439975.6:c.116A>T (GHRL) | ENSP00000403725.2:p.Gln39Leu | |
| ENST00000446937.2:c.73-875A>T (GHRL) | ENSP00000394923.2:n.73-875A>T | |
| ENST00000449238.6:c.230A>T (GHRL) | ENSP00000388145.2:p.Gln77Leu | |
| ENST00000457360.5:c.269A>T (GHRL) | ENSP00000391406.1:p.Gln90Leu | |
| ENST00000475759.5:n.389A>T (GHRL) | ||
| ENST00000476283.1:n.581A>T (GHRL) | ||
| ENST00000481287.5:n.446A>T (GHRL) | ||
| ENST00000491589.5:n.360A>T (GHRL) | ||
| NM_001134941.2:c.266A>T (GHRL) | NP_001128413.1:p.Gln89Leu | |
| NM_001134944.1:c.233A>T (GHRL) | NP_001128416.1:p.Gln78Leu | |
| NM_001134945.1:c.230A>T (GHRL) | NP_001128417.1:p.Gln77Leu | |
| NM_001134946.1:c.116A>T (GHRL) | NP_001128418.1:p.Gln39Leu | |
| NM_001302821.1:c.269A>T (GHRL) | NP_001289750.1:p.Gln90Leu | |
| NM_001302822.1:c.269A>T (GHRL) | NP_001289751.1:p.Gln90Leu | |
| NM_001302823.1:c.266A>T (GHRL) | NP_001289752.1:p.Gln89Leu | |
| NM_001302824.1:c.269A>T (GHRL) | NP_001289753.1:p.Gln90Leu | |
| NM_001302825.1:c.269A>T (GHRL) | NP_001289754.1:p.Gln90Leu | |
| NM_016362.4:c.269A>T (GHRL) | NP_057446.1:p.Gln90Leu | |
| NR_004431.3:n.158-645T>A (GHRLOS) | ||
| NR_024144.2:n.241-645T>A (GHRLOS) | ||
| NR_024145.2:n.397+916T>A (GHRLOS) | ||
| NR_073566.1:n.337-645T>A (GHRLOS) | ||
| NR_073567.1:n.241-519T>A (GHRLOS) | ||
| NR_073568.1:n.241-645T>A (GHRLOS) | ||
| NR_126505.1:n.107-875A>T (GHRL) | ||
| XM_017006612.2:c.269A>T (GHRL) | XP_016862101.1:p.Gln90Leu | |
| XM_017006613.2:c.266A>T (GHRL) | XP_016862102.1:p.Gln89Leu | |
| XM_024453594.1:c.269A>T (GHRL) | XP_024309362.1:p.Gln90Leu | |
| NM_001134941.3:c.266A>T (GHRL) | NP_001128413.1:p.Gln89Leu | |
| NM_001134944.2:c.233A>T (GHRL) | NP_001128416.1:p.Gln78Leu | |
| NM_001134945.2:c.230A>T (GHRL) | NP_001128417.1:p.Gln77Leu | |
| NM_001134946.2:c.116A>T (GHRL) | NP_001128418.1:p.Gln39Leu | |
| NM_001302821.2:c.269A>T (GHRL) | NP_001289750.1:p.Gln90Leu | |
| NM_001302822.2:c.269A>T (GHRL) | NP_001289751.1:p.Gln90Leu | |
| NM_001302823.2:c.266A>T (GHRL) | NP_001289752.1:p.Gln89Leu | |
| NM_001302824.2:c.269A>T (GHRL) | NP_001289753.1:p.Gln90Leu | |
| NM_001302825.2:c.269A>T (GHRL) | NP_001289754.1:p.Gln90Leu | |
| NM_016362.5:c.269A>T (GHRL) MANE Select | NP_057446.1:p.Gln90Leu | |
| NR_126505.2:n.107-875A>T (GHRL) |