Linked Data
ClinVar Variation Id:
1055925
ClinVar RCV Id:
RCV001364676
dbSNP Id:
rs1242438215
gnomAD v4:
16-81315175-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315175G>C , CM000678.2:g.81315175G>C | GRCh38 |
| NC_000016.9:g.81348780G>C , CM000678.1:g.81348780G>C | GRCh37 |
| NC_000016.8:g.79906281G>C | NCBI36 |
| NG_009007.1:g.5210G>C , LRG_242:g.5210G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.62G>C | ENSP00000498114.1:p.Ser21Thr | |
| ENST00000648994.2:c.62G>C MANE Select | ENSP00000497351.1:p.Ser21Thr | |
| ENST00000650388.1:c.62G>C | ENSP00000498081.1:p.Ser21Thr | |
| ENST00000674788.1:n.187G>C | ||
| ENST00000568107.2:c.62G>C | ENSP00000476795.1:p.Ser21Thr | |
| NM_022041.3:c.62G>C , LRG_242t1:c.62G>C | NP_071324.1:p.Ser21Thr | |
| XM_017023734.1:c.-463G>C | XP_016879223.1:n.-463G>C | |
| NM_001377486.1:c.-463G>C | NP_001364415.1:n.-463G>C | |
| NM_022041.4:c.62G>C MANE Select | NP_071324.1:p.Ser21Thr |