Linked Data
dbSNP Id:
rs199839143
ExAC:
3:190106131 C / A
gnomAD v2:
3-190106131-C-A
gnomAD v3:
3-190388342-C-A
gnomAD v4:
3-190388342-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388342C>A , CM000665.2:g.190388342C>A | GRCh38 |
| NC_000003.11:g.190106131C>A , CM000665.1:g.190106131C>A | GRCh37 |
| NC_000003.10:g.191588825C>A | NCBI36 |
| NG_008149.1:g.5291C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.13C>A MANE Select | ENSP00000264734.3:p.Leu5Ile | |
| ENST00000456423.2:c.13C>A | ENSP00000414136.2:p.Leu5Ile | |
| ENST00000264734.2:c.223C>A | ENSP00000264734.2:p.Leu75Ile | |
| ENST00000456423.1:c.223C>A | ENSP00000414136.1:p.Leu75Ile | |
| ENST00000468220.1:n.306+13739C>A | ||
| NM_006580.3:c.223C>A | NP_006571.1:p.Leu75Ile | |
| NM_001378492.1:c.13C>A | NP_001365421.1:p.Leu5Ile | |
| NM_001378493.1:c.13C>A | NP_001365422.1:p.Leu5Ile | |
| NM_006580.4:c.13C>A MANE Select | NP_006571.2:p.Leu5Ile |