Linked Data
ClinVar Variation Id:
900109
dbSNP Id:
rs373060774
ExAC:
3:49059927 C / T
gnomAD v2:
3-49059927-C-T
gnomAD v3:
3-49022494-C-T
gnomAD v4:
3-49022494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49022494C>T , CM000665.2:g.49022494C>T | GRCh38 |
| NC_000003.11:g.49059927C>T , CM000665.1:g.49059927C>T | GRCh37 |
| NC_000003.10:g.49034931C>T | NCBI36 |
| NG_012091.1:g.11949G>A | |
| NG_016282.1:g.7020C>T | |
| NG_033126.1:g.3578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326925.11:c.226C>T MANE Select | ENSP00000323076.5:p.Leu76Phe | |
| ENST00000326912.8:c.55C>T | ENSP00000323003.4:p.Leu19Phe | |
| ENST00000326925.10:c.226C>T | ENSP00000323076.5:p.Leu76Phe | |
| ENST00000395458.6:c.55C>T | ENSP00000378843.2:p.Leu19Phe | |
| ENST00000451378.2:c.55C>T | ENSP00000402465.2:p.Leu19Phe | |
| ENST00000480392.1:n.250C>T | ||
| ENST00000496152.1:n.382C>T | ||
| NM_199069.1:c.226C>T | NP_951032.1:p.Leu76Phe | |
| NM_199070.1:c.55C>T | NP_951033.1:p.Leu19Phe | |
| NM_199073.1:c.55C>T | NP_951047.1:p.Leu19Phe | |
| NM_199074.1:c.55C>T | NP_951056.1:p.Leu19Phe | |
| NM_199069.2:c.226C>T MANE Select | NP_951032.1:p.Leu76Phe | |
| NM_199070.2:c.55C>T | NP_951033.1:p.Leu19Phe | |
| NM_199073.2:c.55C>T | NP_951047.1:p.Leu19Phe | |
| NM_199074.2:c.55C>T | NP_951056.1:p.Leu19Phe |