Linked Data
dbSNP Id:
rs1640233
ExAC:
7:5643145 T / C
gnomAD v2:
7-5643145-T-C
gnomAD v3:
7-5603514-T-C
gnomAD v4:
7-5603514-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603514T>C , CM000669.2:g.5603514T>C | GRCh38 |
| NC_000007.13:g.5643145T>C , CM000669.1:g.5643145T>C | GRCh37 |
| NC_000007.12:g.5609671T>C | NCBI36 |
| NG_030004.1:g.15710T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382361.8:c.1008T>C MANE Select | ENSP00000371798.3:p.Phe336= | |
| ENST00000382361.7:c.1008T>C | ENSP00000371798.3:p.Phe336= | |
| ENST00000405801.2:c.174T>C | ENSP00000383982.2:p.Phe58= | |
| ENST00000444748.5:c.174T>C | ENSP00000404506.1:p.Phe58= | |
| ENST00000447103.5:c.174T>C | ENSP00000409967.1:p.Phe58= | |
| ENST00000473330.1:n.561T>C | ||
| NM_003088.3:c.1008T>C | NP_003079.1:p.Phe336= | |
| NM_003088.4:c.1008T>C MANE Select | NP_003079.1:p.Phe336= |