Linked Data
dbSNP Id:
rs763532592
ExAC:
6:143806377 T / C
gnomAD v2:
6-143806377-T-C
gnomAD v4:
6-143485240-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485240T>C , CM000668.2:g.143485240T>C | GRCh38 |
| NC_000006.11:g.143806377T>C , CM000668.1:g.143806377T>C | GRCh37 |
| NC_000006.10:g.143848070T>C | NCBI36 |
| NG_008459.1:g.39460T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1030T>C MANE Select | ENSP00000356563.4:p.Phe344Leu | |
| ENST00000367591.4:c.1030T>C | ENSP00000356563.4:p.Phe344Leu | |
| ENST00000585848.1:n.169T>C | ||
| NM_003630.2:c.1030T>C | NP_003621.1:p.Phe344Leu | |
| NM_003630.3:c.1030T>C MANE Select | NP_003621.1:p.Phe344Leu |