Linked Data
dbSNP Id:
rs759801815
ExAC:
10:115804975 T / C
gnomAD v2:
10-115804975-T-C
gnomAD v3:
10-114045216-T-C
gnomAD v4:
10-114045216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045216T>C , CM000672.2:g.114045216T>C | GRCh38 |
| NC_000010.10:g.115804975T>C , CM000672.1:g.115804975T>C | GRCh37 |
| NC_000010.9:g.115794965T>C | NCBI36 |
| NG_012187.1:g.6170T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1084T>C MANE Select | ENSP00000358301.2:p.Phe362Leu | |
| ENST00000369295.3:c.1084T>C | ENSP00000358301.2:p.Phe362Leu | |
| NM_000684.2:c.1084T>C | NP_000675.1:p.Phe362Leu | |
| NM_000684.3:c.1084T>C MANE Select | NP_000675.1:p.Phe362Leu |