Linked Data
dbSNP Id:
rs577387219
ExAC:
3:10331469 C / A
gnomAD v2:
3-10331469-C-A
gnomAD v3:
3-10289785-C-A
gnomAD v4:
3-10289785-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10289785C>A , CM000665.2:g.10289785C>A | GRCh38 |
| NC_000003.11:g.10331469C>A , CM000665.1:g.10331469C>A | GRCh37 |
| NC_000003.10:g.10306469C>A | NCBI36 |
| NG_011560.1:g.8163G>T | |
| NG_033090.1:g.13834C>A | |
| NG_033090.2:g.13834C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335542.13:c.202G>T (GHRL) MANE Select | ENSP00000335074.8:p.Ala68Ser | |
| ENST00000287656.11:c.199G>T (GHRL) | ENSP00000287656.7:p.Ala67Ser | |
| ENST00000335542.12:c.202G>T (GHRL) | ENSP00000335074.8:p.Ala68Ser | |
| ENST00000422159.5:c.202G>T (GHRL) | ENSP00000405464.1:p.Ala68Ser | |
| ENST00000429122.1:c.202G>T (GHRL) | ENSP00000414819.1:p.Ala68Ser | |
| ENST00000430179.5:c.199G>T (GHRL) | ENSP00000399922.1:p.Ala67Ser | |
| ENST00000437422.6:c.166G>T (GHRL) | ENSP00000416768.2:p.Ala56Ser | |
| ENST00000439975.6:c.73-2973G>T (GHRL) | ENSP00000403725.2:n.73-2973G>T | |
| ENST00000446937.2:c.72+3057G>T (GHRL) | ENSP00000394923.2:n.72+3057G>T | |
| ENST00000449238.6:c.163G>T (GHRL) | ENSP00000388145.2:p.Ala55Ser | |
| ENST00000457360.5:c.202G>T (GHRL) | ENSP00000391406.1:p.Ala68Ser | |
| ENST00000475759.5:n.23G>T (GHRL) | ||
| ENST00000476283.1:n.23G>T (GHRL) | ||
| ENST00000481287.5:n.379G>T (GHRL) | ||
| ENST00000491589.5:n.293G>T (GHRL) | ||
| NM_001134941.2:c.199G>T (GHRL) | NP_001128413.1:p.Ala67Ser | |
| NM_001134944.1:c.166G>T (GHRL) | NP_001128416.1:p.Ala56Ser | |
| NM_001134945.1:c.163G>T (GHRL) | NP_001128417.1:p.Ala55Ser | |
| NM_001134946.1:c.73-2973G>T (GHRL) | NP_001128418.1:n.73-2973G>T | |
| NM_001302821.1:c.202G>T (GHRL) | NP_001289750.1:p.Ala68Ser | |
| NM_001302822.1:c.202G>T (GHRL) | NP_001289751.1:p.Ala68Ser | |
| NM_001302823.1:c.199G>T (GHRL) | NP_001289752.1:p.Ala67Ser | |
| NM_001302824.1:c.202G>T (GHRL) | NP_001289753.1:p.Ala68Ser | |
| NM_001302825.1:c.202G>T (GHRL) | NP_001289754.1:p.Ala68Ser | |
| NM_016362.4:c.202G>T (GHRL) | NP_057446.1:p.Ala68Ser | |
| NR_004431.3:n.383+1683C>A (GHRLOS) | ||
| NR_024144.2:n.466+1683C>A (GHRLOS) | ||
| NR_024145.2:n.555+1683C>A (GHRLOS) | ||
| NR_073566.1:n.566+1679C>A (GHRLOS) | ||
| NR_073567.1:n.554+1683C>A (GHRLOS) | ||
| NR_073568.1:n.409+1683C>A (GHRLOS) | ||
| NR_126505.1:n.106+3057G>T (GHRL) | ||
| XM_017006612.2:c.202G>T (GHRL) | XP_016862101.1:p.Ala68Ser | |
| XM_017006613.2:c.199G>T (GHRL) | XP_016862102.1:p.Ala67Ser | |
| XM_024453594.1:c.202G>T (GHRL) | XP_024309362.1:p.Ala68Ser | |
| NM_001134941.3:c.199G>T (GHRL) | NP_001128413.1:p.Ala67Ser | |
| NM_001134944.2:c.166G>T (GHRL) | NP_001128416.1:p.Ala56Ser | |
| NM_001134945.2:c.163G>T (GHRL) | NP_001128417.1:p.Ala55Ser | |
| NM_001134946.2:c.73-2973G>T (GHRL) | NP_001128418.1:n.73-2973G>T | |
| NM_001302821.2:c.202G>T (GHRL) | NP_001289750.1:p.Ala68Ser | |
| NM_001302822.2:c.202G>T (GHRL) | NP_001289751.1:p.Ala68Ser | |
| NM_001302823.2:c.199G>T (GHRL) | NP_001289752.1:p.Ala67Ser | |
| NM_001302824.2:c.202G>T (GHRL) | NP_001289753.1:p.Ala68Ser | |
| NM_001302825.2:c.202G>T (GHRL) | NP_001289754.1:p.Ala68Ser | |
| NM_016362.5:c.202G>T (GHRL) MANE Select | NP_057446.1:p.Ala68Ser | |
| NR_126505.2:n.106+3057G>T (GHRL) |