Linked Data
ClinVar Variation Id:
284727
dbSNP Id:
rs151263636
ExAC:
17:61995761 G / A
gnomAD v2:
17-61995761-G-A
gnomAD v3:
17-63918401-G-A
gnomAD v4:
17-63918401-G-A
COSMIC:
COSM982759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918401G>A , CM000679.2:g.63918401G>A | GRCh38 |
| NC_000017.10:g.61995761G>A , CM000679.1:g.61995761G>A | GRCh37 |
| NC_000017.9:g.59349493G>A | NCBI36 |
| NG_011676.1:g.5438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.116C>T (GH1) MANE Select | ENSP00000312673.5:p.Ala39Val | |
| ENST00000647774.1:c.394C>T | ||
| ENST00000323322.9:c.116C>T (GH1) | ENSP00000312673.5:p.Ala39Val | |
| ENST00000342364.8:c.116C>T (GH1) | ENSP00000339278.4:p.Ala39Val | |
| ENST00000351388.8:c.116C>T (GH1) | ENSP00000343791.4:p.Ala39Val | |
| ENST00000392824.8:c.10+366C>T (CSHL1) | ENSP00000376569.5:n.10+366C>T | |
| ENST00000458650.6:c.116C>T (GH1) | ENSP00000408486.2:p.Ala39Val | |
| ENST00000579711.1:n.268C>T (GH1) | ||
| ENST00000617086.1:c.10+366C>T (GH1) | ENSP00000481276.1:n.10+366C>T | |
| NM_000515.4:c.116C>T (GH1) | NP_000506.2:p.Ala39Val | |
| NM_022559.3:c.116C>T (GH1) | NP_072053.1:p.Ala39Val | |
| NM_022560.3:c.116C>T (GH1) | NP_072054.1:p.Ala39Val | |
| XM_011524612.1:c.116C>T (GH1) | XP_011522914.1:p.Ala39Val | |
| NM_000515.5:c.116C>T (GH1) MANE Select | NP_000506.2:p.Ala39Val | |
| NM_022559.4:c.116C>T (GH1) | NP_072053.1:p.Ala39Val | |
| NM_022560.4:c.116C>T (GH1) | NP_072054.1:p.Ala39Val |