Linked Data
dbSNP Id:
rs192838566
gnomAD v2:
3-10331345-G-C
gnomAD v3:
3-10289661-G-C
gnomAD v4:
3-10289661-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10289661G>C , CM000665.2:g.10289661G>C | GRCh38 |
| NC_000003.11:g.10331345G>C , CM000665.1:g.10331345G>C | GRCh37 |
| NC_000003.10:g.10306345G>C | NCBI36 |
| NG_011560.1:g.8287C>G | |
| NG_033090.1:g.13710G>C | |
| NG_033090.2:g.13710G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335542.13:c.225+101C>G (GHRL) MANE Select | ENSP00000335074.8:n.225+101C>G | |
| ENST00000287656.11:c.222+101C>G (GHRL) | ENSP00000287656.7:n.222+101C>G | |
| ENST00000335542.12:c.225+101C>G (GHRL) | ENSP00000335074.8:n.225+101C>G | |
| ENST00000422159.5:c.225+101C>G (GHRL) | ENSP00000405464.1:n.225+101C>G | |
| ENST00000429122.1:c.225+101C>G (GHRL) | ENSP00000414819.1:n.225+101C>G | |
| ENST00000430179.5:c.222+101C>G (GHRL) | ENSP00000399922.1:n.222+101C>G | |
| ENST00000437422.6:c.189+101C>G (GHRL) | ENSP00000416768.2:n.189+101C>G | |
| ENST00000439975.6:c.73-2849C>G (GHRL) | ENSP00000403725.2:n.73-2849C>G | |
| ENST00000446937.2:c.72+3181C>G (GHRL) | ENSP00000394923.2:n.72+3181C>G | |
| ENST00000449238.6:c.186+101C>G (GHRL) | ENSP00000388145.2:n.186+101C>G | |
| ENST00000457360.5:c.225+101C>G (GHRL) | ENSP00000391406.1:n.225+101C>G | |
| ENST00000475759.5:n.46+101C>G (GHRL) | ||
| ENST00000476283.1:n.46+101C>G (GHRL) | ||
| ENST00000481287.5:n.402+101C>G (GHRL) | ||
| ENST00000491589.5:n.316+101C>G (GHRL) | ||
| NM_001134941.2:c.222+101C>G (GHRL) | NP_001128413.1:n.222+101C>G | |
| NM_001134944.1:c.189+101C>G (GHRL) | NP_001128416.1:n.189+101C>G | |
| NM_001134945.1:c.186+101C>G (GHRL) | NP_001128417.1:n.186+101C>G | |
| NM_001134946.1:c.73-2849C>G (GHRL) | NP_001128418.1:n.73-2849C>G | |
| NM_001302821.1:c.225+101C>G (GHRL) | NP_001289750.1:n.225+101C>G | |
| NM_001302822.1:c.225+101C>G (GHRL) | NP_001289751.1:n.225+101C>G | |
| NM_001302823.1:c.222+101C>G (GHRL) | NP_001289752.1:n.222+101C>G | |
| NM_001302824.1:c.225+101C>G (GHRL) | NP_001289753.1:n.225+101C>G | |
| NM_001302825.1:c.225+101C>G (GHRL) | NP_001289754.1:n.225+101C>G | |
| NM_016362.4:c.225+101C>G (GHRL) | NP_057446.1:n.225+101C>G | |
| NR_004431.3:n.383+1559G>C (GHRLOS) | ||
| NR_024144.2:n.466+1559G>C (GHRLOS) | ||
| NR_024145.2:n.555+1559G>C (GHRLOS) | ||
| NR_073566.1:n.566+1555G>C (GHRLOS) | ||
| NR_073567.1:n.554+1559G>C (GHRLOS) | ||
| NR_073568.1:n.409+1559G>C (GHRLOS) | ||
| NR_126505.1:n.106+3181C>G (GHRL) | ||
| XM_017006612.2:c.225+101C>G (GHRL) | XP_016862101.1:n.225+101C>G | |
| XM_017006613.2:c.222+101C>G (GHRL) | XP_016862102.1:n.222+101C>G | |
| XM_024453594.1:c.225+101C>G (GHRL) | XP_024309362.1:n.225+101C>G | |
| NM_001134941.3:c.222+101C>G (GHRL) | NP_001128413.1:n.222+101C>G | |
| NM_001134944.2:c.189+101C>G (GHRL) | NP_001128416.1:n.189+101C>G | |
| NM_001134945.2:c.186+101C>G (GHRL) | NP_001128417.1:n.186+101C>G | |
| NM_001134946.2:c.73-2849C>G (GHRL) | NP_001128418.1:n.73-2849C>G | |
| NM_001302821.2:c.225+101C>G (GHRL) | NP_001289750.1:n.225+101C>G | |
| NM_001302822.2:c.225+101C>G (GHRL) | NP_001289751.1:n.225+101C>G | |
| NM_001302823.2:c.222+101C>G (GHRL) | NP_001289752.1:n.222+101C>G | |
| NM_001302824.2:c.225+101C>G (GHRL) | NP_001289753.1:n.225+101C>G | |
| NM_001302825.2:c.225+101C>G (GHRL) | NP_001289754.1:n.225+101C>G | |
| NM_016362.5:c.225+101C>G (GHRL) MANE Select | NP_057446.1:n.225+101C>G | |
| NR_126505.2:n.106+3181C>G (GHRL) |