Linked Data
ClinVar Variation Id:
1256463
ClinVar RCV Id:
RCV001663805
dbSNP Id:
rs764409572
ExAC:
17:62024510 C / G
gnomAD v2:
17-62024510-C-G
gnomAD v4:
17-63947150-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947150C>G , CM000679.2:g.63947150C>G | GRCh38 |
| NC_000017.10:g.62024510C>G , CM000679.1:g.62024510C>G | GRCh37 |
| NC_000017.9:g.59378242C>G | NCBI36 |
| NG_011699.1:g.30769G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3336G>C MANE Select | ENSP00000396320.1:p.Leu1112Phe | |
| ENST00000578147.5:c.3336G>C | ENSP00000463963.1:p.Leu1112Phe | |
| NM_000334.4:c.3336G>C MANE Select | NP_000325.4:p.Leu1112Phe | |
| XM_005257566.3:c.3336G>C | XP_005257623.1:p.Leu1112Phe |