Linked Data
ClinVar Variation Id:
15974
ClinVar RCV Id:
RCV000017344
dbSNP Id:
rs137853221
gnomAD v2:
17-61995163-T-C
gnomAD v4:
17-63917803-T-C
PubMed:
PMID:9276733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63917803T>C , CM000679.2:g.63917803T>C | GRCh38 |
| NC_000017.10:g.61995163T>C , CM000679.1:g.61995163T>C | GRCh37 |
| NC_000017.9:g.59348895T>C | NCBI36 |
| NG_011676.1:g.6036A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323322.10:c.413A>G (GH1) MANE Select | ENSP00000312673.5:p.Asp138Gly | |
| ENST00000647774.1:c.691A>G | ||
| ENST00000323322.9:c.413A>G (GH1) | ENSP00000312673.5:p.Asp138Gly | |
| ENST00000342364.8:c.172-297A>G (GH1) | ENSP00000339278.4:n.172-297A>G | |
| ENST00000351388.8:c.293A>G (GH1) | ENSP00000343791.4:p.Asp98Gly | |
| ENST00000392824.8:c.10+964A>G (CSHL1) | ENSP00000376569.5:n.10+964A>G | |
| ENST00000458650.6:c.368A>G (GH1) | ENSP00000408486.2:p.Asp123Gly | |
| ENST00000579711.1:n.774A>G (GH1) | ||
| ENST00000617086.1:c.11-297A>G (GH1) | ENSP00000481276.1:n.11-297A>G | |
| NM_000515.4:c.413A>G (GH1) | NP_000506.2:p.Asp138Gly | |
| NM_022559.3:c.368A>G (GH1) | NP_072053.1:p.Asp123Gly | |
| NM_022560.3:c.293A>G (GH1) | NP_072054.1:p.Asp98Gly | |
| XM_011524612.1:c.413A>G (GH1) | XP_011522914.1:p.Asp138Gly | |
| XR_002958148.1:n.402T>C | ||
| NM_000515.5:c.413A>G (GH1) MANE Select | NP_000506.2:p.Asp138Gly | |
| NM_022559.4:c.368A>G (GH1) | NP_072053.1:p.Asp123Gly | |
| NM_022560.4:c.293A>G (GH1) | NP_072054.1:p.Asp98Gly |