Linked Data
dbSNP Id:
rs141615526
ExAC:
12:8212331 A / G
gnomAD v2:
12-8212331-A-G
gnomAD v3:
12-8059735-A-G
gnomAD v4:
12-8059735-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8059735A>G , CM000674.2:g.8059735A>G | GRCh38 |
| NC_000012.11:g.8212331A>G , CM000674.1:g.8212331A>G | GRCh37 |
| NC_000012.10:g.8103598A>G | NCBI36 |
| NG_050736.1:g.11737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307637.5:c.451T>C MANE Select | ENSP00000302079.4:p.Phe151Leu | |
| ENST00000307637.4:c.451T>C | ENSP00000302079.4:p.Phe151Leu | |
| NM_004054.2:c.451T>C | NP_004045.1:p.Phe151Leu | |
| NM_001326475.1:c.451T>C | NP_001313404.1:p.Phe151Leu | |
| NM_001326477.1:c.451T>C | NP_001313406.1:p.Phe151Leu | |
| NM_004054.3:c.451T>C | NP_004045.1:p.Phe151Leu | |
| NM_001326475.2:c.451T>C | NP_001313404.1:p.Phe151Leu | |
| NM_001326477.2:c.451T>C | NP_001313406.1:p.Phe151Leu | |
| NM_004054.4:c.451T>C MANE Select | NP_004045.1:p.Phe151Leu |