Linked Data
ClinVar Variation Id:
324457
dbSNP Id:
rs140787052
ExAC:
17:61995750 C / T
gnomAD v2:
17-61995750-C-T
gnomAD v3:
17-63918390-C-T
gnomAD v4:
17-63918390-C-T
COSMIC:
COSM257020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918390C>T , CM000679.2:g.63918390C>T | GRCh38 |
| NC_000017.10:g.61995750C>T , CM000679.1:g.61995750C>T | GRCh37 |
| NC_000017.9:g.59349482C>T | NCBI36 |
| NG_011676.1:g.5449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323322.10:c.127G>A (GH1) MANE Select | ENSP00000312673.5:p.Ala43Thr | |
| ENST00000647774.1:c.405G>A | ||
| ENST00000323322.9:c.127G>A (GH1) | ENSP00000312673.5:p.Ala43Thr | |
| ENST00000342364.8:c.127G>A (GH1) | ENSP00000339278.4:p.Ala43Thr | |
| ENST00000351388.8:c.127G>A (GH1) | ENSP00000343791.4:p.Ala43Thr | |
| ENST00000392824.8:c.10+377G>A (CSHL1) | ENSP00000376569.5:n.10+377G>A | |
| ENST00000458650.6:c.127G>A (GH1) | ENSP00000408486.2:p.Ala43Thr | |
| ENST00000579711.1:n.279G>A (GH1) | ||
| ENST00000617086.1:c.10+377G>A (GH1) | ENSP00000481276.1:n.10+377G>A | |
| NM_000515.4:c.127G>A (GH1) | NP_000506.2:p.Ala43Thr | |
| NM_022559.3:c.127G>A (GH1) | NP_072053.1:p.Ala43Thr | |
| NM_022560.3:c.127G>A (GH1) | NP_072054.1:p.Ala43Thr | |
| XM_011524612.1:c.127G>A (GH1) | XP_011522914.1:p.Ala43Thr | |
| NM_000515.5:c.127G>A (GH1) MANE Select | NP_000506.2:p.Ala43Thr | |
| NM_022559.4:c.127G>A (GH1) | NP_072053.1:p.Ala43Thr | |
| NM_022560.4:c.127G>A (GH1) | NP_072054.1:p.Ala43Thr |