Linked Data
ClinVar Variation Id:
1541597
ClinVar RCV Id:
RCV002164662
dbSNP Id:
rs756521034
ExAC:
1:115216533 G / C
gnomAD v2:
1-115216533-G-C
gnomAD v3:
1-114673912-G-C
gnomAD v4:
1-114673912-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114673912G>C , CM000663.2:g.114673912G>C | GRCh38 |
| NC_000001.10:g.115216533G>C , CM000663.1:g.115216533G>C | GRCh37 |
| NC_000001.9:g.115018056G>C | NCBI36 |
| NG_008012.1:g.26644C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1959C>G | ENSP00000358551.4:p.Thr653= | |
| ENST00000520113.7:c.1971C>G MANE Select | ENSP00000430075.3:p.Thr657= | |
| ENST00000637080.1:c.1754C>G | ENSP00000489753.1:n.1754C>G | |
| ENST00000638214.1:n.1084C>G | ||
| ENST00000639077.1:n.1493C>G | ||
| ENST00000639274.1:n.601C>G | ||
| ENST00000369538.3:c.2058C>G | ENSP00000358551.3:p.Thr686= | |
| ENST00000520113.6:c.2070C>G | ENSP00000430075.2:p.Thr690= | |
| NM_000036.2:c.2070C>G | NP_000027.2:p.Thr690= | |
| NM_001172626.1:c.2058C>G | NP_001166097.1:p.Thr686= | |
| NM_000036.3:c.1971C>G MANE Select | NP_000027.3:p.Thr657= | |
| NM_001172626.2:c.1959C>G | NP_001166097.2:p.Thr653= |