Linked Data
ClinVar Variation Id:
391923
ClinVar RCV Id:
RCV000440430
dbSNP Id:
rs1057524290
gnomAD v4:
17-63959273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63959273A>G , CM000679.2:g.63959273A>G | GRCh38 |
| NC_000017.10:g.62036633A>G , CM000679.1:g.62036633A>G | GRCh37 |
| NC_000017.9:g.59390365A>G | NCBI36 |
| NG_011699.1:g.18646T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.2011T>C MANE Select | ENSP00000396320.1:p.Phe671Leu | |
| ENST00000578147.5:c.2011T>C | ENSP00000463963.1:p.Phe671Leu | |
| NM_000334.4:c.2011T>C MANE Select | NP_000325.4:p.Phe671Leu | |
| XM_005257566.3:c.2011T>C | XP_005257623.1:p.Phe671Leu |