Linked Data
ClinVar Variation Id:
797844
ClinVar RCV Id:
RCV000981323
dbSNP Id:
rs544405485
ExAC:
2:55870319 T / C
gnomAD v2:
2-55870319-T-C
gnomAD v3:
2-55643184-T-C
gnomAD v4:
2-55643184-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55643184T>C , CM000664.2:g.55643184T>C | GRCh38 |
| NC_000002.11:g.55870319T>C , CM000664.1:g.55870319T>C | GRCh37 |
| NC_000002.10:g.55723823T>C | NCBI36 |
| NG_033012.1:g.55727A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2043A>G MANE Select | ENSP00000400646.2:p.Val681= | |
| ENST00000260604.8:c.*1585A>G | ENSP00000260604.4:n.*1585A>G | |
| ENST00000415374.5:c.2043A>G | ENSP00000393953.1:p.Val681= | |
| ENST00000447944.6:c.2043A>G | ENSP00000400646.2:p.Val681= | |
| ENST00000481066.1:n.1105A>G | ||
| NM_033109.4:c.2043A>G | NP_149100.2:p.Val681= | |
| XM_005264629.1:c.1803A>G | XP_005264686.1:p.Val601= | |
| XM_005264629.2:c.1803A>G | XP_005264686.1:p.Val601= | |
| XM_017005172.1:c.1803A>G | XP_016860661.1:p.Val601= | |
| NM_033109.5:c.2043A>G MANE Select | NP_149100.2:p.Val681= |