Linked Data
ClinVar Variation Id:
543079
ClinVar RCV Id:
RCV000653738
dbSNP Id:
rs1554442101
gnomAD v4:
7-19117289-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117289C>A , CM000669.2:g.19117289C>A | GRCh38 |
| NC_000007.13:g.19156912C>A , CM000669.1:g.19156912C>A | GRCh37 |
| NC_000007.12:g.19123437C>A | NCBI36 |
| NG_008114.1:g.5384G>T | |
| NG_008114.2:g.5384G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.33G>T MANE Select | ENSP00000242261.5:p.Ser11= | |
| ENST00000242261.5:c.33G>T | ENSP00000242261.5:p.Ser11= | |
| NM_000474.3:c.33G>T | NP_000465.1:p.Ser11= | |
| XM_011515496.1:c.33G>T | XP_011513798.1:p.Ser11= | |
| NR_149001.1:n.384G>T | ||
| NM_000474.4:c.33G>T MANE Select | NP_000465.1:p.Ser11= | |
| NR_149001.2:n.348G>T |