Linked Data
ClinVar Variation Id:
354510
ClinVar RCV Id:
RCV002323558
dbSNP Id:
rs769463654
ExAC:
5:86564675 C / T
gnomAD v2:
5-86564675-C-T
gnomAD v3:
5-87268858-C-T
gnomAD v4:
5-87268858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87268858C>T , CM000667.2:g.87268858C>T | GRCh38 |
| NC_000005.9:g.86564675C>T , CM000667.1:g.86564675C>T | GRCh37 |
| NC_000005.8:g.86600431C>T | NCBI36 |
| NG_011650.1:g.5525C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.407C>T MANE Select | ENSP00000274376.6:p.Pro136Leu | |
| ENST00000274376.10:c.407C>T | ENSP00000274376.6:p.Pro136Leu | |
| ENST00000515800.6:c.407C>T | ENSP00000423395.2:p.Pro136Leu | |
| NM_002890.2:c.407C>T | NP_002881.1:p.Pro136Leu | |
| XM_011543525.1:c.407C>T | XP_011541827.1:p.Pro136Leu | |
| XM_011543526.1:c.407C>T | XP_011541828.1:p.Pro136Leu | |
| XM_011543527.1:c.407C>T | XP_011541829.1:p.Pro136Leu | |
| XM_011543525.2:c.407C>T | XP_011541827.1:p.Pro136Leu | |
| XM_011543527.3:c.407C>T | XP_011541829.1:p.Pro136Leu | |
| NM_002890.3:c.407C>T MANE Select | NP_002881.1:p.Pro136Leu |