Linked Data
dbSNP Id:
rs375737581
ExAC:
12:5154594 G / T
gnomAD v2:
12-5154594-G-T
gnomAD v3:
12-5045428-G-T
gnomAD v4:
12-5045428-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045428G>T , CM000674.2:g.5045428G>T | GRCh38 |
| NC_000012.11:g.5154594G>T , CM000674.1:g.5154594G>T | GRCh37 |
| NC_000012.10:g.5024855G>T | NCBI36 |
| NG_012198.1:g.6510G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1281G>T MANE Select | ENSP00000252321.3:p.Leu427Phe | |
| ENST00000252321.4:c.1281G>T | ENSP00000252321.3:p.Leu427Phe | |
| NM_002234.3:c.1281G>T | NP_002225.2:p.Leu427Phe | |
| NM_002234.4:c.1281G>T MANE Select | NP_002225.2:p.Leu427Phe |