Linked Data
dbSNP Id:
rs747391523
ExAC:
5:134364597 C / A
gnomAD v2:
5-134364597-C-A
gnomAD v4:
5-135028907-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028907C>A , CM000667.2:g.135028907C>A | GRCh38 |
| NC_000005.9:g.134364597C>A , CM000667.1:g.134364597C>A | GRCh37 |
| NC_000005.8:g.134392496C>A | NCBI36 |
| NG_012114.1:g.10368G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.817G>T MANE Select | ENSP00000265340.6:p.Val273Phe | |
| ENST00000265340.11:c.817G>T | ENSP00000265340.6:p.Val273Phe | |
| ENST00000506438.5:c.817G>T | ENSP00000427542.1:p.Val273Phe | |
| NM_002653.4:c.817G>T | NP_002644.4:p.Val273Phe | |
| NM_002653.5:c.817G>T MANE Select | NP_002644.4:p.Val273Phe |