Linked Data
ClinVar Variation Id:
5036
ClinVar RCV Id:
RCV000005339
dbSNP Id:
rs119485093
gnomAD v4:
16-81315156-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315156C>A , CM000678.2:g.81315156C>A | GRCh38 |
| NC_000016.9:g.81348761C>A , CM000678.1:g.81348761C>A | GRCh37 |
| NC_000016.8:g.79906262C>A | NCBI36 |
| NG_009007.1:g.5191C>A , LRG_242:g.5191C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.43C>A | ENSP00000498114.1:p.Arg15Ser | |
| ENST00000648994.2:c.43C>A MANE Select | ENSP00000497351.1:p.Arg15Ser | |
| ENST00000650388.1:c.43C>A | ENSP00000498081.1:p.Arg15Ser | |
| ENST00000674788.1:n.168C>A | ||
| ENST00000568107.2:c.43C>A | ENSP00000476795.1:p.Arg15Ser | |
| NM_022041.3:c.43C>A , LRG_242t1:c.43C>A | NP_071324.1:p.Arg15Ser | |
| XM_017023734.1:c.-482C>A | XP_016879223.1:n.-482C>A | |
| NM_001377486.1:c.-482C>A | NP_001364415.1:n.-482C>A | |
| NM_022041.4:c.43C>A MANE Select | NP_071324.1:p.Arg15Ser |