Linked Data
ClinVar Variation Id:
324970
ClinVar RCV Id:
RCV000355978
dbSNP Id:
rs886053369
gnomAD v3:
17-73201145-A-G
gnomAD v4:
17-73201145-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73201145A>G , CM000679.2:g.73201145A>G | GRCh38 |
| NC_000017.10:g.71197284A>G , CM000679.1:g.71197284A>G | GRCh37 |
| NC_000017.9:g.68708879A>G | NCBI36 |
| NG_008971.1:g.13112A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.1318A>G MANE Select | ENSP00000299886.4:p.Ser440Gly | |
| ENST00000299886.8:c.1318A>G | ENSP00000299886.4:p.Ser440Gly | |
| ENST00000438720.7:c.1316A>G | ||
| ENST00000618996.4:c.1318A>G | ENSP00000479450.1:p.Ser440Gly | |
| NM_018714.2:c.1318A>G | NP_061184.1:p.Ser440Gly | |
| NM_018714.3:c.1318A>G MANE Select | NP_061184.1:p.Ser440Gly |