Linked Data
ClinVar Variation Id:
95913
dbSNP Id:
rs1551036
ExAC:
17:71197439 C / T
gnomAD v2:
17-71197439-C-T
gnomAD v3:
17-73201300-C-T
gnomAD v4:
17-73201300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73201300C>T , CM000679.2:g.73201300C>T | GRCh38 |
| NC_000017.10:g.71197439C>T , CM000679.1:g.71197439C>T | GRCh37 |
| NC_000017.9:g.68709034C>T | NCBI36 |
| NG_008971.1:g.13267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.1473C>T MANE Select | ENSP00000299886.4:p.Ser491= | |
| ENST00000299886.8:c.1473C>T | ENSP00000299886.4:p.Ser491= | |
| ENST00000438720.7:c.1471C>T | ||
| ENST00000618996.4:c.1473C>T | ENSP00000479450.1:p.Ser491= | |
| NM_018714.2:c.1473C>T | NP_061184.1:p.Ser491= | |
| NM_018714.3:c.1473C>T MANE Select | NP_061184.1:p.Ser491= |