Linked Data
ClinVar Variation Id:
60546
ClinVar RCV Id:
RCV000054440
RCV000533184
RCV000610921
RCV000444697
RCV001331794
RCV003388824
RCV003421962
RCV002513711
dbSNP Id:
rs142336618
ExAC:
3:49761081 C / G
gnomAD v2:
3-49761081-C-G
gnomAD v3:
3-49723648-C-G
gnomAD v4:
3-49723648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49723648C>G , CM000665.2:g.49723648C>G | GRCh38 |
| NC_000003.11:g.49761081C>G , CM000665.1:g.49761081C>G | GRCh37 |
| NC_000003.10:g.49736085C>G | NCBI36 |
| NG_033731.1:g.5327G>C | |
| NG_033731.2:g.5327G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.79G>C MANE Select | ENSP00000311130.6:p.Asp27His | |
| ENST00000481959.2:n.296G>C | ||
| ENST00000495627.2:c.79G>C | ENSP00000503768.1:p.Asp27His | |
| ENST00000677393.1:c.79G>C | ENSP00000503880.1:p.Asp27His | |
| ENST00000678010.1:c.79G>C | ENSP00000503176.1:p.Asp27His | |
| ENST00000678208.1:n.296G>C | ||
| ENST00000678853.1:c.79G>C | ENSP00000504692.1:p.Asp27His | |
| ENST00000308375.10:c.79G>C | ENSP00000309092.6:p.Asp27His | |
| ENST00000308388.6:c.79G>C | ENSP00000311130.6:p.Asp27His | |
| ENST00000480687.5:c.79G>C | ENSP00000418565.1:p.Asp27His | |
| ENST00000481959.1:n.296G>C | ||
| ENST00000495627.1:n.269G>C | ||
| NM_013334.3:c.79G>C | NP_037466.2:p.Asp27His | |
| NM_021971.2:c.79G>C | NP_068806.1:p.Asp27His | |
| NM_021971.4:c.79G>C MANE Select | NP_068806.2:p.Asp27His | |
| NM_013334.4:c.79G>C | NP_037466.3:p.Asp27His |