Linked Data
dbSNP Id:
rs777505926
ExAC:
5:54529030 A / G
gnomAD v2:
5-54529030-A-G
gnomAD v3:
5-55233202-A-G
gnomAD v4:
5-55233202-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233202A>G , CM000667.2:g.55233202A>G | GRCh38 |
| NC_000005.9:g.54529030A>G , CM000667.1:g.54529030A>G | GRCh37 |
| NC_000005.8:g.54564787A>G | NCBI36 |
| NG_034201.1:g.5516T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.322T>C MANE Select | ENSP00000282572.4:p.Phe108Leu | |
| ENST00000282572.4:c.322T>C | ENSP00000282572.4:p.Phe108Leu | |
| ENST00000501463.2:c.322T>C | ENSP00000422485.1:p.Phe108Leu | |
| NM_021147.4:c.322T>C | NP_066970.3:p.Phe108Leu | |
| NR_125346.1:n.516T>C | ||
| NR_125347.1:n.516T>C | ||
| NM_021147.5:c.322T>C MANE Select | NP_066970.3:p.Phe108Leu | |
| NR_125346.2:n.407T>C | ||
| NR_125347.2:n.407T>C |