Linked Data
ClinVar Variation Id:
324455
ClinVar RCV Id:
RCV000364589
dbSNP Id:
rs367960425
ExAC:
17:61995369 C / A
gnomAD v2:
17-61995369-C-A
gnomAD v3:
17-63918009-C-A
gnomAD v4:
17-63918009-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918009C>A , CM000679.2:g.63918009C>A | GRCh38 |
| NC_000017.10:g.61995369C>A , CM000679.1:g.61995369C>A | GRCh37 |
| NC_000017.9:g.59349101C>A | NCBI36 |
| NG_011676.1:g.5830G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.291+8G>T (GH1) MANE Select | ENSP00000312673.5:n.291+8G>T | |
| ENST00000647774.1:c.569+8G>T | ||
| ENST00000323322.9:c.291+8G>T (GH1) | ENSP00000312673.5:n.291+8G>T | |
| ENST00000342364.8:c.171+337G>T (GH1) | ENSP00000339278.4:n.171+337G>T | |
| ENST00000351388.8:c.172-85G>T (GH1) | ENSP00000343791.4:n.172-85G>T | |
| ENST00000392824.8:c.10+758G>T (CSHL1) | ENSP00000376569.5:n.10+758G>T | |
| ENST00000458650.6:c.246+8G>T (GH1) | ENSP00000408486.2:n.246+8G>T | |
| ENST00000579711.1:n.652+8G>T (GH1) | ||
| ENST00000617086.1:c.11-503G>T (GH1) | ENSP00000481276.1:n.11-503G>T | |
| NM_000515.4:c.291+8G>T (GH1) | NP_000506.2:n.291+8G>T | |
| NM_022559.3:c.246+8G>T (GH1) | NP_072053.1:n.246+8G>T | |
| NM_022560.3:c.172-85G>T (GH1) | NP_072054.1:n.172-85G>T | |
| XM_011524612.1:c.291+8G>T (GH1) | XP_011522914.1:n.291+8G>T | |
| NM_000515.5:c.291+8G>T (GH1) MANE Select | NP_000506.2:n.291+8G>T | |
| NM_022559.4:c.246+8G>T (GH1) | NP_072053.1:n.246+8G>T | |
| NM_022560.4:c.172-85G>T (GH1) | NP_072054.1:n.172-85G>T |