Linked Data
dbSNP Id:
rs781751345
ExAC:
7:5642966 A / T
gnomAD v2:
7-5642966-A-T
gnomAD v4:
7-5603335-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603335A>T , CM000669.2:g.5603335A>T | GRCh38 |
| NC_000007.13:g.5642966A>T , CM000669.1:g.5642966A>T | GRCh37 |
| NC_000007.12:g.5609492A>T | NCBI36 |
| NG_030004.1:g.15531A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.911A>T MANE Select | ENSP00000371798.3:p.Lys304Met | |
| ENST00000382361.7:c.911A>T | ENSP00000371798.3:p.Lys304Met | |
| ENST00000405801.2:c.77A>T | ENSP00000383982.2:p.Lys26Met | |
| ENST00000444748.5:c.77A>T | ENSP00000404506.1:p.Lys26Met | |
| ENST00000447103.5:c.77A>T | ENSP00000409967.1:p.Lys26Met | |
| ENST00000473330.1:n.464A>T | ||
| NM_003088.3:c.911A>T | NP_003079.1:p.Lys304Met | |
| NM_003088.4:c.911A>T MANE Select | NP_003079.1:p.Lys304Met |