Linked Data
ClinVar Variation Id:
1082577
ClinVar RCV Id:
RCV001398960
dbSNP Id:
rs779828195
ExAC:
17:16852301 G / C
gnomAD v2:
17-16852301-G-C
gnomAD v4:
17-16948987-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948987G>C , CM000679.2:g.16948987G>C | GRCh38 |
| NC_000017.10:g.16852301G>C , CM000679.1:g.16852301G>C | GRCh37 |
| NC_000017.9:g.16793026G>C | NCBI36 |
| NG_007281.1:g.28102C>G , LRG_120:g.28102C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.200-4C>G MANE Select | ENSP00000261652.2:n.200-4C>G | |
| ENST00000261652.6:c.200-4C>G | ENSP00000261652.2:n.200-4C>G | |
| ENST00000579315.5:c.200-4C>G | ENSP00000464069.1:n.200-4C>G | |
| ENST00000581616.2:n.203-4C>G | ||
| ENST00000582931.5:n.104-4C>G | ||
| ENST00000583789.1:c.62-4C>G | ENSP00000462952.1:n.62-4C>G | |
| ENST00000584950.5:c.62-4C>G | ENSP00000463582.1:n.62-4C>G | |
| NM_012452.2:c.200-4C>G , LRG_120t1:c.200-4C>G | NP_036584.1:n.200-4C>G | |
| NM_012452.3:c.200-4C>G MANE Select | NP_036584.1:n.200-4C>G |